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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
A Q I V E K A K S V D V T E K D P M T L E C V V A G T P E L K V K W L K D G K Q I V P S R Y F S M S F E N N V A S F R I Q S V M K Q D S G Q Y T F K V E N D F G S S S C D A Y L R V L D Q N I P P S F T K K L T K M D K V L G S S I H M E C K V S G S L P I S A Q W F K D G K E I S T S A K Y R L V C H E R S V S L E V N N L E L E D T A N Y T C K V S N V A G D D A C S G I L T V K
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P S F T K K L T K M D K V L G S S I H M E C K V S G S L P I S A Q W F K D G K E I S T S A K Y R L V C H E R S V S L E V N N L E L E D T A N Y T C K V S N V A G D D A C S G I L T 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
6481 1 P/S 1 rs73038342 0.1359 None gnomAD-3.1.2 6.57E-06
6481 1 P/S 1 rs73038342 0.1359 None 1000 genomes 1.99681E-04
6481 1 P/T 1 rs73038342 0.1359 None gnomAD-2.1.1 8.18E-05
6481 1 P/T 1 rs73038342 0.1359 None gnomAD-3.1.2 5.92E-05
6481 1 P/T 1 rs73038342 0.1359 None gnomAD-4.0.0 8.62227E-05
6482 2 S/P 2 rs1560758702 0.2997 None gnomAD-4.0.0 1.20032E-06
6483 3 F/L 3 rs373750655 0.1472 None gnomAD-2.1.1 2.58E-05
6483 3 F/L 3 rs373750655 0.1472 None gnomAD-3.1.2 6.57E-06
6483 3 F/L 3 rs373750655 0.1472 None gnomAD-4.0.0 3.81018E-05
6484 4 T/A 4 rs1425867664 0.3781 None gnomAD-2.1.1 4.28E-06
6484 4 T/A 4 rs1425867664 0.3781 None gnomAD-4.0.0 1.62217E-06
6485 5 K/R 5 None 0.3471 None gnomAD-4.0.0 1.20032E-06
6486 6 K/Q 7 None 0.4842 None gnomAD-4.0.0 1.619E-06
6486 6 K/R 7 rs1168625867 0.4842 None gnomAD-2.1.1 4.26E-06
6486 6 K/R 7 rs1168625867 0.4842 None gnomAD-3.1.2 6.57E-06
6486 6 K/R 7 rs1168625867 0.4842 None gnomAD-4.0.0 6.8615E-06
6487 7 L/I 8 None 0.1843 None gnomAD-4.0.0 6.89078E-07
6488 8 T/N 9 rs2079735151 0.6378 None gnomAD-4.0.0 1.61567E-06
6489 9 K/E 11 None 0.5192 None gnomAD-4.0.0 1.61465E-06
6490 10 M/I 13 rs746981434 0.1815 None gnomAD-2.1.1 4.21E-06
6490 10 M/I 13 rs746981434 0.1815 None gnomAD-4.0.0 4.83993E-06
6490 10 M/T 13 rs769527897 0.1815 None gnomAD-2.1.1 8.48E-06
6490 10 M/T 13 rs769527897 0.1815 None gnomAD-3.1.2 6.57E-06
6490 10 M/T 13 rs769527897 0.1815 None gnomAD-4.0.0 4.364E-06
6491 11 D/G 14 rs747741123 0.4460 None gnomAD-2.1.1 8.39E-06
6491 11 D/G 14 rs747741123 0.4460 None gnomAD-4.0.0 2.06356E-06
6491 11 D/N 14 rs2079733131 0.4460 None gnomAD-3.1.2 6.58E-06
6491 11 D/N 14 rs2079733131 0.4460 None gnomAD-4.0.0 6.5754E-06
6491 11 D/Y 14 None 0.4460 None gnomAD-4.0.0 1.20032E-06
6492 12 K/E 16 rs781106189 0.4039 None gnomAD-2.1.1 1.26E-05
6492 12 K/E 16 rs781106189 0.4039 None gnomAD-4.0.0 1.03148E-05
6494 14 L/R 23 rs376857772 0.5505 None gnomAD-2.1.1 9.52E-05
6494 14 L/R 23 rs376857772 0.5505 None gnomAD-3.1.2 5.91E-05
6494 14 L/R 23 rs376857772 0.5505 None 1000 genomes 3.99361E-04
6494 14 L/R 23 rs376857772 0.5505 None gnomAD-4.0.0 2.67282E-05
6495 15 G/A 24 rs182633829 0.3028 None gnomAD-2.1.1 4.13E-06
6495 15 G/A 24 rs182633829 0.3028 None gnomAD-3.1.2 6.58E-06
6495 15 G/A 24 rs182633829 0.3028 None 1000 genomes 1.99681E-04
6495 15 G/A 24 rs182633829 0.3028 None gnomAD-4.0.0 3.86666E-06
6495 15 G/D 24 rs182633829 0.3028 None gnomAD-3.1.2 6.58E-06
6495 15 G/D 24 rs182633829 0.3028 None gnomAD-4.0.0 6.57601E-06
6496 16 S/F 25 rs376604816 0.2456 None gnomAD-2.1.1 1.23E-05
6496 16 S/F 25 rs376604816 0.2456 None gnomAD-4.0.0 7.53771E-06
6497 17 S/C 26 None 0.3530 None gnomAD-4.0.0 2.74095E-06
6498 18 I/T 28 None 0.1523 None gnomAD-4.0.0 4.79111E-06
6499 19 H/L 29 rs375173049 0.4728 None gnomAD-2.1.1 3.25E-05
6499 19 H/L 29 rs375173049 0.4728 None gnomAD-3.1.2 1.18312E-04
6499 19 H/L 29 rs375173049 0.4728 None gnomAD-4.0.0 1.79944E-05
6500 20 M/V 30 None 0.0862 None gnomAD-4.0.0 1.59478E-06
6502 22 C/Y 33 None 0.0819 None gnomAD-4.0.0 1.59346E-06
6503 23 K/E 34 None 0.2655 None gnomAD-4.0.0 1.59321E-06
6504 24 V/L 35 rs762156103 0.1378 None gnomAD-2.1.1 4.05E-06
6504 24 V/L 35 rs762156103 0.1378 None gnomAD-4.0.0 6.84548E-07
6505 25 S/F 38 rs1414011435 0.2957 None gnomAD-2.1.1 4.04E-06
6505 25 S/F 38 rs1414011435 0.2957 None gnomAD-4.0.0 1.593E-06
6506 26 G/D 40 rs1401335381 0.2006 None gnomAD-2.1.1 8.08E-06
6506 26 G/D 40 rs1401335381 0.2006 None gnomAD-4.0.0 2.05353E-06
6508 28 L/V 42 None 0.4603 None gnomAD-4.0.0 1.59281E-06
6509 29 P/L 43 None 0.7679 None gnomAD-4.0.0 1.20032E-06
6509 29 P/S 43 rs764314153 0.7679 None gnomAD-2.1.1 8.08E-06
6509 29 P/S 43 rs764314153 0.7679 None gnomAD-3.1.2 6.58E-06
6509 29 P/S 43 rs764314153 0.7679 None gnomAD-4.0.0 3.09976E-06
6510 30 I/T 44 rs775784361 0.2184 None gnomAD-2.1.1 4.04E-06
6510 30 I/T 44 rs775784361 0.2184 None gnomAD-3.1.2 6.57E-06
6510 30 I/T 44 rs775784361 0.2184 None gnomAD-4.0.0 2.5641E-06
6510 30 I/V 44 rs761041978 0.2184 None gnomAD-2.1.1 1.43E-05
6510 30 I/V 44 rs761041978 0.2184 None gnomAD-3.1.2 2.63E-05
6510 30 I/V 44 rs761041978 0.2184 None gnomAD-4.0.0 3.84345E-05
6512 32 A/S 46 rs2079716781 0.3477 None gnomAD-4.0.0 1.36892E-06
6512 32 A/V 46 rs200902581 0.3477 None gnomAD-2.1.1 1.61E-05
6512 32 A/V 46 rs200902581 0.3477 None gnomAD-4.0.0 6.16005E-06
6514 34 W/C 48 None 0.1158 None gnomAD-4.0.0 4.79107E-06
6514 34 W/L 48 rs760007747 0.1158 None gnomAD-2.1.1 2.51E-05
6514 34 W/L 48 rs760007747 0.1158 None gnomAD-3.1.2 5.26E-05
6514 34 W/L 48 rs760007747 0.1158 None gnomAD-4.0.0 5.20729E-05
6516 36 K/E 50 rs1469339610 0.1583 None gnomAD-3.1.2 6.57E-06
6516 36 K/E 50 rs1469339610 0.1583 None gnomAD-4.0.0 6.57333E-06
6516 36 K/M 50 rs199796249 0.1583 None gnomAD-2.1.1 1.50381E-04
6516 36 K/M 50 rs199796249 0.1583 None gnomAD-3.1.2 2.4979E-04
6516 36 K/M 50 rs199796249 0.1583 None gnomAD-4.0.0 3.69456E-04
6517 37 D/G 51 rs904836264 0.5886 None gnomAD-4.0.0 1.36884E-06
6518 38 G/R 52 None 0.4319 None gnomAD-4.0.0 1.59247E-06
6519 39 K/I 55 None 0.7850 None gnomAD-4.0.0 2.40064E-06
6521 41 I/M 58 rs747626326 0.1273 None gnomAD-2.1.1 8.06E-06
6521 41 I/M 58 rs747626326 0.1273 None gnomAD-4.0.0 1.5924E-06
6521 41 I/T 58 rs769180915 0.1273 None gnomAD-2.1.1 4.03E-06
6521 41 I/T 58 rs769180915 0.1273 None gnomAD-4.0.0 1.59237E-06
6522 42 S/P 59 rs780721181 0.6581 None gnomAD-2.1.1 4.03E-06
6522 42 S/P 59 rs780721181 0.6581 None gnomAD-4.0.0 1.59238E-06
6522 42 S/Y 59 rs768370268 0.6581 None gnomAD-2.1.1 4.03E-06
6522 42 S/Y 59 rs768370268 0.6581 None gnomAD-3.1.2 6.57E-06
6522 42 S/Y 59 rs768370268 0.6581 None gnomAD-4.0.0 1.85969E-06
6523 43 T/A 70 rs1560756818 0.6256 None gnomAD-4.0.0 2.73774E-06
6523 43 T/P 70 None 0.6256 None gnomAD-4.0.0 6.84435E-07
6525 45 A/T 111 rs1578118075 0.8053 None gnomAD-4.0.0 1.59256E-06
6525 45 A/V 111 None 0.8053 None gnomAD-4.0.0 1.59254E-06
6528 48 R/K 122 rs779960008 0.6735 None gnomAD-2.1.1 4.03E-06
6528 48 R/K 122 rs779960008 0.6735 None gnomAD-4.0.0 1.59265E-06
6529 49 L/F 123 rs758456020 0.2807 None gnomAD-2.1.1 1.21E-05
6529 49 L/F 123 rs758456020 0.2807 None gnomAD-4.0.0 7.9629E-06
6530 50 V/A 125 rs1447296765 0.4861 None gnomAD-2.1.1 8.07E-06
6530 50 V/A 125 rs1447296765 0.4861 None gnomAD-4.0.0 4.7781E-06
6530 50 V/M 125 rs1215350767 0.4861 None gnomAD-2.1.1 3.19E-05
6530 50 V/M 125 rs1215350767 0.4861 None gnomAD-3.1.2 6.58E-06
6530 50 V/M 125 rs1215350767 0.4861 None gnomAD-4.0.0 6.57505E-06
6532 52 H/L 130 None 0.7416 None gnomAD-4.0.0 1.59275E-06
6533 53 E/D 131 None 0.4948 None gnomAD-4.0.0 1.59273E-06
6533 53 E/K 131 rs886042142 0.4948 None gnomAD-3.1.2 6.57E-06
6533 53 E/K 131 rs886042142 0.4948 None gnomAD-4.0.0 1.85978E-06
6533 53 E/Q 131 None 0.4948 None gnomAD-4.0.0 2.05346E-06
6535 55 S/T 135 None 0.2320 None gnomAD-4.0.0 6.84502E-07
6536 56 V/A 136 rs1344640559 0.1526 None gnomAD-2.1.1 3.19E-05
6536 56 V/A 136 rs1344640559 0.1526 None gnomAD-3.1.2 6.57E-06
6536 56 V/A 136 rs1344640559 0.1526 None gnomAD-4.0.0 6.57324E-06
6536 56 V/M 136 None 0.1526 None gnomAD-4.0.0 1.5929E-06
6537 57 S/P 137 None 0.1234 None gnomAD-4.0.0 1.20032E-06
6538 58 L/P 138 rs1376037086 0.0602 None gnomAD-4.0.0 4.77943E-06
6539 59 E/D 139 None 0.3618 None gnomAD-4.0.0 2.40065E-06
6540 60 V/A 140 rs1045155829 0.0907 None gnomAD-4.0.0 2.40064E-06
6540 60 V/I 140 rs1157784163 0.0907 None gnomAD-2.1.1 4.04E-06
6540 60 V/I 140 rs1157784163 0.0907 None gnomAD-3.1.2 6.57E-06
6540 60 V/I 140 rs1157784163 0.0907 None gnomAD-4.0.0 1.24006E-06
6541 61 N/D 141 rs1448829330 0.3981 None gnomAD-3.1.2 6.57E-06
6541 61 N/D 141 rs1448829330 0.3981 None gnomAD-4.0.0 6.57376E-06
6542 62 N/K 143 rs374003118 0.6018 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6018 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6018 None gnomAD-4.0.0 1.59365E-06
6543 63 L/M 144 rs1578117153 0.0947 None gnomAD-4.0.0 1.59379E-06
6548 68 T/I 151 None 0.3379 None gnomAD-4.0.0 6.84919E-07
6548 68 T/S 151 rs369899924 0.3379 None gnomAD-2.1.1 8.1E-06
6548 68 T/S 151 rs369899924 0.3379 None gnomAD-4.0.0 2.05476E-06
6550 70 N/D 153 rs1333479032 0.3804 None gnomAD-4.0.0 4.11047E-06
6551 71 Y/C 154 None 0.1092 None gnomAD-4.0.0 1.20032E-06
6551 71 Y/H 154 None 0.1092 None gnomAD-4.0.0 1.59671E-06
6553 73 C/F 156 None 0.0660 None gnomAD-4.0.0 1.60017E-06
6553 73 C/G 156 rs377449031 0.0660 None gnomAD-4.0.0 1.59863E-06
6553 73 C/R 156 rs377449031 0.0660 None gnomAD-2.1.1 4.07E-06
6553 73 C/R 156 rs377449031 0.0660 None gnomAD-4.0.0 1.59863E-06
6554 74 K/R 157 rs2079687407 0.3848 None gnomAD-3.1.2 6.57E-06
6554 74 K/R 157 rs2079687407 0.3848 None gnomAD-4.0.0 1.86322E-06
6555 75 V/L 158 rs753901455 0.1043 None gnomAD-4.0.0 2.33303E-05
6555 75 V/M 158 rs753901455 0.1043 None gnomAD-2.1.1 2.04E-05
6555 75 V/M 158 rs753901455 0.1043 None gnomAD-4.0.0 1.30375E-05
6556 76 S/L 159 rs2154306280 0.2816 None gnomAD-4.0.0 2.33534E-05
6556 76 S/P 159 None 0.2816 None gnomAD-4.0.0 1.6052E-06
6557 77 N/S 161 rs764245160 0.1436 None gnomAD-2.1.1 4.1E-06
6557 77 N/S 161 rs764245160 0.1436 None gnomAD-3.1.2 6.57E-06
6557 77 N/S 161 rs764245160 0.1436 None gnomAD-4.0.0 6.45303E-06
6558 78 V/I 162 rs879223660 0.8648 None gnomAD-2.1.1 4.11E-06
6558 78 V/I 162 rs879223660 0.8648 None gnomAD-3.1.2 3.29E-05
6558 78 V/I 162 rs879223660 0.8648 None gnomAD-4.0.0 3.73447E-06
6559 79 A/P 163 None 0.3630 None gnomAD-4.0.0 1.61547E-06
6561 81 D/N 165 rs938213426 0.6307 None gnomAD-4.0.0 2.06911E-06
6562 82 D/V 166 None 0.2656 None gnomAD-4.0.0 4.87976E-06
6564 84 C/F 169 None 0.1054 None gnomAD-4.0.0 6.93134E-07
6566 86 G/A 172 rs1052515116 0.1429 None gnomAD-2.1.1 5.68E-05
6566 86 G/A 172 rs1052515116 0.1429 None gnomAD-3.1.2 2.63E-05
6566 86 G/A 172 rs1052515116 0.1429 None gnomAD-4.0.0 1.19719E-05
6566 86 G/D 172 rs1052515116 0.1429 None gnomAD-3.1.2 6.58E-06
6566 86 G/D 172 rs1052515116 0.1429 None gnomAD-4.0.0 5.04079E-06
6566 86 G/S 172 rs774723988 0.1429 None gnomAD-2.1.1 8.7E-06
6566 86 G/S 172 rs774723988 0.1429 None gnomAD-4.0.0 6.2682E-06
6567 87 I/S 173 None 0.5333 None gnomAD-4.0.0 7.01308E-07
6567 87 I/T 173 rs1355956536 0.5333 None gnomAD-2.1.1 4.52E-06
6567 87 I/T 173 rs1355956536 0.5333 None gnomAD-4.0.0 2.80523E-06
6567 87 I/V 173 rs1415509567 0.5333 None gnomAD-2.1.1 4.5E-06
6567 87 I/V 173 rs1415509567 0.5333 None gnomAD-4.0.0 1.40212E-06
6568 88 L/S 174 rs1297518586 0.1028 None gnomAD-4.0.0 1.69465E-06
6569 89 T/A 175 rs1428304417 0.2233 None gnomAD-2.1.1 4.61E-06
6569 89 T/A 175 rs1428304417 0.2233 None gnomAD-4.0.0 1.70176E-06
6569 89 T/I 175 None 0.2233 None gnomAD-4.0.0 1.70386E-06
6570 90 V/A 177 None 0.1258 None gnomAD-4.0.0 6.39828E-06