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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80
I T F T Q E L Q D V V A K E K D T M A T F E C E T S E P F V K V K W Y K D G M E V H E G D K Y R M H S D R K V H F L S I L T I D T S D A E D Y S C V L V E D E N V K T T A K L I V E
I T F T Q E L Q D V V A K E K D T M A T F E C E T S E P F V K V K W Y K D G M E V H E G D K Y R M H S D R K V H F L S I L T I D T S D A E D Y S C V L V E D E N V K T T A K L I V -

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2174 1 I/M 1 rs1414401674 0.5551 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.5551 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.5551 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.5551 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.1906 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.1906 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.1906 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.4233 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.3683 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.6800 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.5101 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1788 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1788 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1788 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.5008 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1560 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1560 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.3519 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.8137 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.8137 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.8137 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.8137 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.8137 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.8137 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.4226 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.4226 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.4226 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.1710 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.1710 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.1710 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.1710 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.2909 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.2909 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.2909 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.2909 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.2909 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.3428 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.3428 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.3428 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0763 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0763 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0763 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0763 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0763 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.1957 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.1957 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0928 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0928 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0928 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0928 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0928 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.4244 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.4244 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.2835 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 0.6679 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 0.6679 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 0.6679 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.2172 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.2172 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.2172 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.2172 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.2172 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.2172 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.2172 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.2172 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.8113 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.8113 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.8113 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.8113 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.2103 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.2103 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.3102 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.2047 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.2047 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1428 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.8284 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.3974 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.3974 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.3974 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.7171 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.7171 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.7171 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.7171 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.2947 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.2947 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.2947 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1452 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.7625 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.7625 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.5805 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.3481 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.3481 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.3481 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 1.1751 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1671 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1671 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1671 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1671 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1671 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.1894 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.1894 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.1894 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.6307 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2744 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2744 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2744 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2744 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2744 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.4341 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.4341 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.4341 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.4341 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.4341 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.4341 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.4341 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.4006 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.6605 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6469 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6469 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6469 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.1836 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.1836 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.1836 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.1836 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.1836 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.1836 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1334 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1334 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1334 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1334 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.1737 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0766 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1537 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0746 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0746 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0746 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.2162 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.2162 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.2162 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.2162 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.2162 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.2162 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.2162 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.2162 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.6048 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.6048 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.0945 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.0945 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.0945 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.0945 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.0945 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.0945 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.0945 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.2919 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.6520 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.6520 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.6520 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.6520 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.6520 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.6520 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.6520 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.6520 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.6520 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.6520 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.6520 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.4840 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.4840 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.4840 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.4840 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.1097 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.1097 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.1097 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.1097 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.1097 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.1097 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.1097 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.1097 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.1097 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.3119 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.4548 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.4548 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.4548 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.4548 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0866 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1569 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1569 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0615 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0615 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0615 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.3966 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.3966 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.3966 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.3966 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.3966 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.3966 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.7517 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.7517 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.2416 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.2416 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.2416 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.5181 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.5181 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.1085 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.1085 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.1085 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.1085 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.3601 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.3601 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.3601 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.3601 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.3601 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.0988 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.0988 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.0988 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4145 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4145 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.0983 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.0983 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.4075 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.4075 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.4075 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.4075 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.4075 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.4075 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.4075 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.2370 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.2370 None gnomAD-4.0.0 1.59173E-06