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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 90
K P S Q P G E L E I L S I S K D S V T L Q W E K P E C D G G K E I L G Y W V E Y R Q S G D S A W K K S N K E R I K D K Q F T I G G L L E A T E Y E F R V F A E N E T G L S R P R R T A M S I K T K L T S G E A P G I R K E M K D V T T K L G E A A Q L S C Q I V G R P L P D I K W Y R F G K E L I Q S R K Y K M S S D G R T H T L T V M T E E Q E D E G V Y T C I A T N E V G E V E T S S K L L L Q
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P G I R K E M K D V T T K L G E A A Q L S C Q I V G R P L P D I K W Y R F G K E L I Q S R K Y K M S S D G R T H T L T V M T E E Q E D E G V Y T C I A T N E V G E V E T S S K L L L -

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
33101 1 P/L 1 None 0.3596 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.2915 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.2915 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.2915 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.2915 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.2915 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.2915 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.2915 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.2870 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.2870 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.2870 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.2870 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.6768 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.6768 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.6768 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.6768 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.6768 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.6768 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.6768 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.6768 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.5572 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.5572 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.5572 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.7607 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.1277 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.1277 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.1277 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.1277 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.8437 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.8437 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.4948 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.4948 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.4948 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.4948 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.2470 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.2470 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1635 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1635 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1635 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1635 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1635 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.4760 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.4730 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.4730 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.4730 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.4155 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.4155 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.4155 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.4107 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.4107 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.4107 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.4107 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.4107 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.1529 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.1529 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.6293 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.6293 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.1204 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.1204 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.1204 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.1077 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.1077 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.1186 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.1186 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.3299 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.1829 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.1829 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.5585 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.5585 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.5585 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.5585 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.5585 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.4291 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.4291 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.4291 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.1856 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.2219 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.2219 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.3203 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.1345 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.1345 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.1345 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.1345 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.1202 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.1202 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.1202 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.1202 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.7969 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.7969 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.7969 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.3111 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.3111 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.3111 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.1608 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 0.8535 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.4338 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.4338 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.4338 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.4338 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.4338 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.4338 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 0.9816 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 0.9816 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 0.9816 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 0.9816 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 0.9816 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 0.9816 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.4615 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.2239 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.2239 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.5191 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.5191 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.5191 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.3571 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.4751 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.4751 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.4751 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.4751 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.4751 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.4751 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.4751 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.4751 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.4751 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.2351 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.2351 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.2351 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.1367 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.1367 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.1367 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.1367 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.1367 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.1014 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.1014 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.3175 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.3175 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.3175 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.3175 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.1179 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.5034 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.5034 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.4193 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.2159 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.2159 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.1205 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1205 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.1205 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.1205 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.2059 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.2059 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.0840 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.0840 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.0840 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.0840 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.0840 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.0840 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.2280 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.2280 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.2280 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.3228 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1348 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1348 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1348 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1348 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.8226 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.8226 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.8226 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.5891 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.5891 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.5891 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.5891 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.5891 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.5891 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.5891 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.5891 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.5891 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.5891 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.2908 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.3219 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.3219 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.3219 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.6483 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.3564 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.3564 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.3564 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1322 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1322 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1322 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1322 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.5676 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.5676 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.5676 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.5676 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.5676 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.5676 None gnomAD-4.0.0 3.40821E-05