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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
A A F L K R L S D H S V E P G K S I I L E S T Y T G T L P I S V T W K K D G F N I T T S E K C N I V T T E K T C I L E I L N S T K R D A G Q Y S C E I E N E A G R D V C G A L V S T L E P P Y F V T E L E P L E A A V G D S V S L Q C Q V A G T P E I T V S W Y K G D T K L R P T P E Y R T Y F T N N V A T L V F N K V N I N D S G E Y T C K A E N S I G T A S S K T V F R I Q
A A F L K R L S D H S V E P G K S I I L E S T Y T G T L P I S V T W K K D G F N I T T S E K C N I V T T E K T C I L E I L N S T K R D A G Q Y S C E I E N E A G R D V C G A L V S - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

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
7230 1 A/S 1 rs1458297684 0.1525 None gnomAD-4.0.0 6.00161E-06
7230 1 A/V 1 rs761223583 0.1525 None gnomAD-2.1.1 5.29E-05
7230 1 A/V 1 rs761223583 0.1525 None gnomAD-3.1.2 1.97E-05
7230 1 A/V 1 rs761223583 0.1525 None gnomAD-4.0.0 2.73078E-05
7231 2 A/E 2 None 0.3341 None gnomAD-4.0.0 1.20032E-06
7231 2 A/T 2 rs1486491329 0.3341 None gnomAD-2.1.1 4.07E-06
7231 2 A/T 2 rs1486491329 0.3341 None gnomAD-4.0.0 2.74132E-06
7232 3 F/L 3 None 0.1454 None gnomAD-4.0.0 1.20032E-06
7232 3 F/V 3 rs776163887 0.1454 None gnomAD-2.1.1 4.88E-05
7232 3 F/V 3 rs776163887 0.1454 None gnomAD-3.1.2 2.63E-05
7232 3 F/V 3 rs776163887 0.1454 None gnomAD-4.0.0 2.10943E-05
7233 4 L/F 4 rs370679926 0.8318 None gnomAD-4.0.0 1.37052E-06
7233 4 L/M 4 None 0.8318 None gnomAD-4.0.0 1.20032E-06
7234 5 K/E 5 rs1243074128 0.3899 None gnomAD-2.1.1 4.07E-06
7234 5 K/E 5 rs1243074128 0.3899 None gnomAD-4.0.0 3.19281E-06
7234 5 K/R 5 rs2078749547 0.3899 None gnomAD-4.0.0 1.59662E-06
7235 6 R/G 7 None 0.3537 None gnomAD-4.0.0 1.20032E-06
7235 6 R/S 7 rs772506057 0.3537 None gnomAD-2.1.1 4.06E-06
7235 6 R/S 7 rs772506057 0.3537 None gnomAD-4.0.0 1.59434E-06
7236 7 L/I 8 None 0.2331 None gnomAD-4.0.0 6.16289E-06
7236 7 L/S 8 rs746222807 0.2331 None gnomAD-2.1.1 2.16E-05
7236 7 L/S 8 rs746222807 0.2331 None gnomAD-3.1.2 3.94E-05
7236 7 L/S 8 rs746222807 0.2331 None gnomAD-4.0.0 9.30223E-06
7237 8 S/C 9 None 0.6781 None gnomAD-4.0.0 1.36945E-06
7237 8 S/N 9 rs769315703 0.6781 None gnomAD-2.1.1 4.06E-06
7237 8 S/R 9 None 0.6781 None gnomAD-4.0.0 1.59411E-06
7237 8 S/T 9 rs769315703 0.6781 None gnomAD-2.1.1 4.06E-06
7237 8 S/T 9 rs769315703 0.6781 None gnomAD-3.1.2 6.57E-06
7237 8 S/T 9 rs769315703 0.6781 None gnomAD-4.0.0 2.02999E-06
7238 9 D/E 11 rs2078746720 0.6466 None gnomAD-4.0.0 1.3691E-06
7238 9 D/H 11 rs747881141 0.6466 None gnomAD-3.1.2 6.57E-06
7238 9 D/H 11 rs747881141 0.6466 None gnomAD-4.0.0 6.57402E-06
7238 9 D/N 11 rs747881141 0.6466 None gnomAD-2.1.1 1.44E-05
7238 9 D/N 11 rs747881141 0.6466 None gnomAD-3.1.2 1.97E-05
7238 9 D/N 11 rs747881141 0.6466 None gnomAD-4.0.0 6.20152E-06
7238 9 D/V 11 rs780646514 0.6466 None gnomAD-2.1.1 3.65E-05
7238 9 D/V 11 rs780646514 0.6466 None gnomAD-4.0.0 1.27536E-05
7239 10 H/R 13 None 0.5039 None gnomAD-4.0.0 3.1845E-06
7240 11 S/F 14 None 0.4631 None gnomAD-4.0.0 1.59228E-06
7241 12 V/A 16 rs1292676739 0.1464 None gnomAD-2.1.1 4.05E-06
7241 12 V/A 16 rs1292676739 0.1464 None gnomAD-4.0.0 1.59215E-06
7241 12 V/I 16 rs367854582 0.1464 None gnomAD-2.1.1 6.11E-05
7241 12 V/I 16 rs367854582 0.1464 None gnomAD-3.1.2 1.90639E-04
7241 12 V/I 16 rs367854582 0.1464 None 1000 genomes 1.99681E-04
7241 12 V/I 16 rs367854582 0.1464 None gnomAD-4.0.0 3.47095E-05
7241 12 V/L 16 None 0.1464 None gnomAD-4.0.0 6.8439E-07
7243 14 P/L 23 rs193060723 0.4605 None gnomAD-2.1.1 8.1E-06
7243 14 P/L 23 rs193060723 0.4605 None gnomAD-3.1.2 1.97E-05
7243 14 P/L 23 rs193060723 0.4605 None 1000 genomes 3.99361E-04
7243 14 P/L 23 rs193060723 0.4605 None gnomAD-4.0.0 8.67717E-06
7243 14 P/S 23 None 0.4605 None gnomAD-4.0.0 1.59201E-06
7244 15 G/E 24 None 0.2677 None gnomAD-4.0.0 5.47479E-06
7245 16 K/T 25 None 0.4624 None gnomAD-4.0.0 1.20032E-06
7246 17 S/F 26 rs1477073298 0.2759 None gnomAD-2.1.1 3.19E-05
7246 17 S/F 26 rs1477073298 0.2759 None gnomAD-3.1.2 1.32E-05
7246 17 S/F 26 rs1477073298 0.2759 None gnomAD-4.0.0 3.84442E-06
7247 18 I/L 28 None 0.1410 None gnomAD-4.0.0 6.84337E-07
7247 18 I/T 28 None 0.1410 None gnomAD-4.0.0 4.77582E-06
7247 18 I/V 28 None 0.1410 None gnomAD-4.0.0 6.84337E-07
7248 19 I/T 29 None 0.5100 None gnomAD-4.0.0 1.20032E-06
7250 21 E/G 31 rs758430575 0.4319 None gnomAD-2.1.1 4.04E-06
7250 21 E/G 31 rs758430575 0.4319 None gnomAD-4.0.0 1.59181E-06
7251 22 S/I 33 rs1387731794 0.0977 None gnomAD-2.1.1 4.04E-06
7251 22 S/I 33 rs1387731794 0.0977 None gnomAD-4.0.0 1.59182E-06
7252 23 T/I 34 rs375714080 0.1939 None gnomAD-4.0.0 1.0949E-05
7254 25 T/A 38 rs1230527204 0.6371 None gnomAD-3.1.2 6.57E-06
7254 25 T/A 38 rs1230527204 0.6371 None gnomAD-4.0.0 3.09882E-06
7255 26 G/A 40 None 0.4012 None gnomAD-4.0.0 1.36861E-06
7255 26 G/V 40 rs1429557332 0.4012 None gnomAD-2.1.1 4.04E-06
7255 26 G/V 40 rs1429557332 0.4012 None gnomAD-3.1.2 6.57E-06
7255 26 G/V 40 rs1429557332 0.4012 None gnomAD-4.0.0 2.47917E-06
7256 27 T/I 41 None 0.8207 None gnomAD-4.0.0 1.20032E-06
7258 29 P/S 43 rs761911665 0.7693 None gnomAD-2.1.1 4.04E-06
7258 29 P/S 43 rs761911665 0.7693 None gnomAD-4.0.0 1.5918E-06
7259 30 I/M 44 rs727505220 0.1825 None gnomAD-2.1.1 4.04E-06
7259 30 I/M 44 rs727505220 0.1825 None gnomAD-4.0.0 6.84303E-07
7260 31 S/F 45 rs187925021 0.3408 None gnomAD-4.0.0 6.84306E-07
7260 31 S/Y 45 rs187925021 0.3408 None gnomAD-2.1.1 3.61452E-03
7260 31 S/Y 45 rs187925021 0.3408 None gnomAD-3.1.2 2.01812E-03
7260 31 S/Y 45 rs187925021 0.3408 None 1000 genomes 8.1869E-03
7260 31 S/Y 45 rs187925021 0.3408 None gnomAD-4.0.0 1.98565E-03
7262 33 T/A 47 None 0.3943 None gnomAD-4.0.0 3.18385E-06
7262 33 T/S 47 rs200954184 0.3943 None gnomAD-2.1.1 6.09E-05
7262 33 T/S 47 rs200954184 0.3943 None gnomAD-3.1.2 3.95E-05
7262 33 T/S 47 rs200954184 0.3943 None gnomAD-4.0.0 3.90515E-05
7263 34 W/C 48 rs377544260 0.1488 None gnomAD-2.1.1 1.43E-05
7263 34 W/C 48 rs377544260 0.1488 None gnomAD-3.1.2 6.58E-05
7263 34 W/C 48 rs377544260 0.1488 None gnomAD-4.0.0 8.67755E-06
7263 34 W/G 48 None 0.1488 None gnomAD-4.0.0 1.36864E-06
7264 35 K/E 49 None 0.2184 None gnomAD-4.0.0 6.84315E-07
7264 35 K/Q 49 rs776072028 0.2184 None gnomAD-2.1.1 1.07E-05
7264 35 K/Q 49 rs776072028 0.2184 None gnomAD-3.1.2 1.97E-05
7264 35 K/Q 49 rs776072028 0.2184 None gnomAD-4.0.0 1.23958E-05
7267 38 G/D 52 rs375627540 0.3701 None gnomAD-2.1.1 6.15821E-04
7267 38 G/D 52 rs375627540 0.3701 None gnomAD-3.1.2 2.6304E-04
7267 38 G/D 52 rs375627540 0.3701 None 1000 genomes 1.99681E-03
7267 38 G/D 52 rs375627540 0.3701 None gnomAD-4.0.0 3.51419E-04
7267 38 G/S 52 rs772450876 0.3701 None gnomAD-2.1.1 4.03E-06
7267 38 G/S 52 rs772450876 0.3701 None gnomAD-4.0.0 3.1841E-06
7267 38 G/V 52 None 0.3701 None gnomAD-4.0.0 6.84334E-07
7269 40 N/K 56 rs78990961 0.6529 None gnomAD-2.1.1 8.07E-06
7269 40 N/K 56 rs78990961 0.6529 None gnomAD-4.0.0 6.36795E-06
7270 41 I/K 58 None 0.2109 None gnomAD-4.0.0 6.84338E-07
7270 41 I/T 58 rs771364084 0.2109 None gnomAD-2.1.1 4.03E-06
7270 41 I/T 58 rs771364084 0.2109 None gnomAD-3.1.2 1.31E-05
7270 41 I/T 58 rs771364084 0.2109 None gnomAD-4.0.0 2.47909E-06
7270 41 I/V 58 rs774554379 0.2109 None gnomAD-4.0.0 1.59197E-06
7271 42 T/A 59 None 0.7716 None gnomAD-4.0.0 3.3609E-05
7272 43 T/A 70 rs747710632 0.5113 None gnomAD-2.1.1 8.07E-06
7272 43 T/A 70 rs747710632 0.5113 None gnomAD-4.0.0 6.36776E-06
7272 43 T/S 70 None 0.5113 None gnomAD-4.0.0 1.59194E-06
7273 44 S/F 73 rs768091794 0.3425 None gnomAD-2.1.1 4.03E-06
7273 44 S/F 73 rs768091794 0.3425 None gnomAD-4.0.0 6.36791E-06
7274 45 E/G 102 None 1.0978 None gnomAD-4.0.0 4.80129E-06
7276 47 C/G 121 None 0.1493 None gnomAD-4.0.0 6.84332E-07
7276 47 C/S 121 rs1362677027 0.1493 None gnomAD-3.1.2 6.58E-06
7276 47 C/S 121 rs1362677027 0.1493 None gnomAD-4.0.0 2.47934E-06
7276 47 C/Y 121 None 0.1493 None gnomAD-4.0.0 5.47471E-06
7277 48 N/D 122 rs758247611 0.4354 None gnomAD-2.1.1 1.07E-05
7277 48 N/D 122 rs758247611 0.4354 None gnomAD-3.1.2 2.63E-05
7277 48 N/D 122 rs758247611 0.4354 None gnomAD-4.0.0 4.95831E-06
7278 49 I/K 123 rs766571996 0.2353 None gnomAD-2.1.1 8.07E-06
7278 49 I/K 123 rs766571996 0.2353 None gnomAD-3.1.2 6.58E-06
7278 49 I/K 123 rs766571996 0.2353 None gnomAD-4.0.0 1.67353E-05
7278 49 I/V 123 None 0.2353 None gnomAD-4.0.0 1.59194E-06
7279 50 V/D 125 None 0.4588 None gnomAD-4.0.0 1.59188E-06
7281 52 T/A 130 rs1482166056 0.3361 None gnomAD-2.1.1 8.06E-06
7281 52 T/A 130 rs1482166056 0.3361 None gnomAD-4.0.0 2.73727E-06
7281 52 T/R 130 rs2078711757 0.3361 None gnomAD-3.1.2 6.58E-06
7281 52 T/R 130 rs2078711757 0.3361 None gnomAD-4.0.0 6.57869E-06
7282 53 E/D 131 None 0.7319 None gnomAD-4.0.0 1.20032E-06
7282 53 E/G 131 rs757098573 0.7319 None gnomAD-2.1.1 4.03E-06
7282 53 E/K 131 rs778532757 0.7319 None gnomAD-2.1.1 1.07E-05
7282 53 E/K 131 rs778532757 0.7319 None gnomAD-3.1.2 3.29E-05
7282 53 E/K 131 rs778532757 0.7319 None gnomAD-4.0.0 2.97507E-05
7284 55 T/I 135 None 0.2836 None gnomAD-4.0.0 5.47474E-06
7285 56 C/Y 136 rs2154302642 0.0866 None gnomAD-4.0.0 3.18396E-06
7286 57 I/V 137 rs1434099856 0.2918 None gnomAD-3.1.2 6.57E-06
7286 57 I/V 137 rs1434099856 0.2918 None gnomAD-4.0.0 2.56307E-06
7287 58 L/V 138 rs754054875 0.0891 None gnomAD-2.1.1 7.15E-06
7287 58 L/V 138 rs754054875 0.0891 None gnomAD-3.1.2 1.97E-05
7287 58 L/V 138 rs754054875 0.0891 None gnomAD-4.0.0 3.09914E-06
7289 60 I/M 140 None 0.1419 None gnomAD-4.0.0 6.84322E-07
7290 61 L/M 141 None 0.4377 None gnomAD-4.0.0 6.84321E-07
7291 62 N/K 143 None 0.7163 None gnomAD-4.0.0 1.20032E-06
7292 63 S/N 144 None 0.1183 None gnomAD-4.0.0 1.20032E-06
7293 64 T/P 145 rs764415612 0.3401 None gnomAD-2.1.1 4.03E-06
7293 64 T/P 145 rs764415612 0.3401 None gnomAD-4.0.0 1.3686E-06
7294 65 K/E 146 rs1333823103 0.7348 None gnomAD-2.1.1 1.21E-05
7294 65 K/E 146 rs1333823103 0.7348 None gnomAD-4.0.0 4.77528E-06
7295 66 R/G 148 rs752809738 0.8362 None gnomAD-2.1.1 4.03E-06
7295 66 R/G 148 rs752809738 0.8362 None gnomAD-4.0.0 1.59175E-06
7295 66 R/I 148 None 0.8362 None gnomAD-4.0.0 1.59175E-06
7295 66 R/S 148 rs1411254237 0.8362 None gnomAD-2.1.1 6.37E-05
7295 66 R/S 148 rs1411254237 0.8362 None gnomAD-3.1.2 1.31E-05
7295 66 R/S 148 rs1411254237 0.8362 None gnomAD-4.0.0 3.09885E-06
7296 67 D/E 149 rs767681708 0.2187 None gnomAD-2.1.1 4.03E-06
7296 67 D/E 149 rs767681708 0.2187 None gnomAD-4.0.0 8.89577E-06
7296 67 D/H 149 rs1391650834 0.2187 None gnomAD-2.1.1 4.03E-06
7296 67 D/H 149 rs1391650834 0.2187 None gnomAD-4.0.0 1.59174E-06
7297 68 A/G 151 None 0.2978 None gnomAD-4.0.0 6.84293E-07
7297 68 A/S 151 rs760654464 0.2978 None gnomAD-2.1.1 4.03E-06
7297 68 A/S 151 rs760654464 0.2978 None gnomAD-3.1.2 6.57E-06
7297 68 A/S 151 rs760654464 0.2978 None gnomAD-4.0.0 8.67678E-06
7297 68 A/T 151 rs760654464 0.2978 None gnomAD-3.1.2 6.57E-06
7297 68 A/T 151 rs760654464 0.2978 None gnomAD-4.0.0 6.57272E-06
7298 69 G/R 152 rs878854292 0.1876 None gnomAD-2.1.1 8.05E-06
7298 69 G/R 152 rs878854292 0.1876 None gnomAD-3.1.2 1.31E-05
7298 69 G/R 152 rs878854292 0.1876 None gnomAD-4.0.0 4.33837E-06
7298 69 G/W 152 None 0.1876 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/P 153 None 0.6659 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/R 153 None 0.6659 None gnomAD-4.0.0 1.36858E-06
7303 74 E/G 157 None 0.2981 None gnomAD-4.0.0 3.18351E-06
7303 74 E/K 157 rs774950387 0.2981 None gnomAD-2.1.1 1.21E-05
7303 74 E/K 157 rs774950387 0.2981 None gnomAD-3.1.2 2.63E-05
7303 74 E/K 157 rs774950387 0.2981 None gnomAD-4.0.0 1.54945E-05
7303 74 E/Q 157 rs774950387 0.2981 None gnomAD-4.0.0 6.84304E-07
7304 75 I/T 158 rs766599708 0.0662 None gnomAD-2.1.1 1.21E-05
7304 75 I/T 158 rs766599708 0.0662 None gnomAD-4.0.0 4.10583E-06
7305 76 E/A 159 rs1553911785 0.4691 None gnomAD-4.0.0 6.36687E-06
7305 76 E/D 159 rs763316110 0.4691 None gnomAD-2.1.1 4.03E-06
7305 76 E/D 159 rs763316110 0.4691 None gnomAD-3.1.2 2.63E-05
7305 76 E/D 159 rs763316110 0.4691 None gnomAD-4.0.0 6.40681E-06
7306 77 N/Y 161 rs773636793 0.2087 None gnomAD-2.1.1 4.03E-06
7306 77 N/Y 161 rs773636793 0.2087 None gnomAD-3.1.2 2.63E-05
7306 77 N/Y 161 rs773636793 0.2087 None gnomAD-4.0.0 6.40695E-06
7310 81 R/M 165 None 0.8210 None gnomAD-4.0.0 1.59175E-06
7310 81 R/S 165 None 0.8210 None gnomAD-4.0.0 1.59178E-06
7311 82 D/E 166 rs746715340 0.1748 None gnomAD-2.1.1 4.03E-06
7311 82 D/E 166 rs746715340 0.1748 None gnomAD-4.0.0 1.59181E-06
7311 82 D/N 166 rs1205648849 0.1748 None gnomAD-2.1.1 4.03E-06
7313 84 C/Y 169 None 0.1317 None gnomAD-4.0.0 1.20032E-06
7314 85 G/R 171 rs2078695205 0.3445 None gnomAD-3.1.2 6.57E-06
7314 85 G/R 171 rs2078695205 0.3445 None gnomAD-4.0.0 2.56307E-06
7315 86 A/G 172 rs771646076 0.1591 None gnomAD-3.1.2 6.57E-06
7315 86 A/G 172 rs771646076 0.1591 None gnomAD-4.0.0 2.47921E-06
7315 86 A/V 172 rs771646076 0.1591 None gnomAD-2.1.1 1.21E-05
7315 86 A/V 172 rs771646076 0.1591 None gnomAD-3.1.2 6.57E-06
7315 86 A/V 172 rs771646076 0.1591 None gnomAD-4.0.0 6.19802E-06
7316 87 L/R 173 rs745745237 0.5736 None gnomAD-2.1.1 4.03E-06
7316 87 L/R 173 rs745745237 0.5736 None gnomAD-4.0.0 6.36799E-06
7316 87 L/V 173 None 0.5736 None gnomAD-4.0.0 6.84339E-07
7318 89 S/P 177 None 0.3700 None gnomAD-4.0.0 1.20032E-06