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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 0.1316 None gnomAD-3.1.2 6.57E-06
6481 1 P/S 1 rs73038342 0.1316 None 1000 genomes 1.99681E-04
6481 1 P/T 1 rs73038342 0.1316 None gnomAD-2.1.1 8.18E-05
6481 1 P/T 1 rs73038342 0.1316 None gnomAD-3.1.2 5.92E-05
6481 1 P/T 1 rs73038342 0.1316 None gnomAD-4.0.0 8.62227E-05
6482 2 S/P 2 rs1560758702 0.3130 None gnomAD-4.0.0 1.20032E-06
6483 3 F/L 3 rs373750655 0.1590 None gnomAD-2.1.1 2.58E-05
6483 3 F/L 3 rs373750655 0.1590 None gnomAD-3.1.2 6.57E-06
6483 3 F/L 3 rs373750655 0.1590 None gnomAD-4.0.0 3.81018E-05
6484 4 T/A 4 rs1425867664 0.4104 None gnomAD-2.1.1 4.28E-06
6484 4 T/A 4 rs1425867664 0.4104 None gnomAD-4.0.0 1.62217E-06
6485 5 K/R 5 None 0.3528 None gnomAD-4.0.0 1.20032E-06
6486 6 K/Q 7 None 0.5192 None gnomAD-4.0.0 1.619E-06
6486 6 K/R 7 rs1168625867 0.5192 None gnomAD-2.1.1 4.26E-06
6486 6 K/R 7 rs1168625867 0.5192 None gnomAD-3.1.2 6.57E-06
6486 6 K/R 7 rs1168625867 0.5192 None gnomAD-4.0.0 6.8615E-06
6487 7 L/I 8 None 0.2175 None gnomAD-4.0.0 6.89078E-07
6488 8 T/N 9 rs2079735151 0.6902 None gnomAD-4.0.0 1.61567E-06
6489 9 K/E 11 None 0.5611 None gnomAD-4.0.0 1.61465E-06
6490 10 M/I 13 rs746981434 0.1935 None gnomAD-2.1.1 4.21E-06
6490 10 M/I 13 rs746981434 0.1935 None gnomAD-4.0.0 4.83993E-06
6490 10 M/T 13 rs769527897 0.1935 None gnomAD-2.1.1 8.48E-06
6490 10 M/T 13 rs769527897 0.1935 None gnomAD-3.1.2 6.57E-06
6490 10 M/T 13 rs769527897 0.1935 None gnomAD-4.0.0 4.364E-06
6491 11 D/G 14 rs747741123 0.4802 None gnomAD-2.1.1 8.39E-06
6491 11 D/G 14 rs747741123 0.4802 None gnomAD-4.0.0 2.06356E-06
6491 11 D/N 14 rs2079733131 0.4802 None gnomAD-3.1.2 6.58E-06
6491 11 D/N 14 rs2079733131 0.4802 None gnomAD-4.0.0 6.5754E-06
6491 11 D/Y 14 None 0.4802 None gnomAD-4.0.0 1.20032E-06
6492 12 K/E 16 rs781106189 0.4239 None gnomAD-2.1.1 1.26E-05
6492 12 K/E 16 rs781106189 0.4239 None gnomAD-4.0.0 1.03148E-05
6494 14 L/R 23 rs376857772 0.5411 None gnomAD-2.1.1 9.52E-05
6494 14 L/R 23 rs376857772 0.5411 None gnomAD-3.1.2 5.91E-05
6494 14 L/R 23 rs376857772 0.5411 None 1000 genomes 3.99361E-04
6494 14 L/R 23 rs376857772 0.5411 None gnomAD-4.0.0 2.67282E-05
6495 15 G/A 24 rs182633829 0.2988 None gnomAD-2.1.1 4.13E-06
6495 15 G/A 24 rs182633829 0.2988 None gnomAD-3.1.2 6.58E-06
6495 15 G/A 24 rs182633829 0.2988 None 1000 genomes 1.99681E-04
6495 15 G/A 24 rs182633829 0.2988 None gnomAD-4.0.0 3.86666E-06
6495 15 G/D 24 rs182633829 0.2988 None gnomAD-3.1.2 6.58E-06
6495 15 G/D 24 rs182633829 0.2988 None gnomAD-4.0.0 6.57601E-06
6496 16 S/F 25 rs376604816 0.2557 None gnomAD-2.1.1 1.23E-05
6496 16 S/F 25 rs376604816 0.2557 None gnomAD-4.0.0 7.53771E-06
6497 17 S/C 26 None 0.3667 None gnomAD-4.0.0 2.74095E-06
6498 18 I/T 28 None 0.1613 None gnomAD-4.0.0 4.79111E-06
6499 19 H/L 29 rs375173049 0.5022 None gnomAD-2.1.1 3.25E-05
6499 19 H/L 29 rs375173049 0.5022 None gnomAD-3.1.2 1.18312E-04
6499 19 H/L 29 rs375173049 0.5022 None gnomAD-4.0.0 1.79944E-05
6500 20 M/V 30 None 0.0959 None gnomAD-4.0.0 1.59478E-06
6502 22 C/Y 33 None 0.0906 None gnomAD-4.0.0 1.59346E-06
6503 23 K/E 34 None 0.3144 None gnomAD-4.0.0 1.59321E-06
6504 24 V/L 35 rs762156103 0.1382 None gnomAD-2.1.1 4.05E-06
6504 24 V/L 35 rs762156103 0.1382 None gnomAD-4.0.0 6.84548E-07
6505 25 S/F 38 rs1414011435 0.3184 None gnomAD-2.1.1 4.04E-06
6505 25 S/F 38 rs1414011435 0.3184 None gnomAD-4.0.0 1.593E-06
6506 26 G/D 40 rs1401335381 0.2154 None gnomAD-2.1.1 8.08E-06
6506 26 G/D 40 rs1401335381 0.2154 None gnomAD-4.0.0 2.05353E-06
6508 28 L/V 42 None 0.3961 None gnomAD-4.0.0 1.59281E-06
6509 29 P/L 43 None 0.7830 None gnomAD-4.0.0 1.20032E-06
6509 29 P/S 43 rs764314153 0.7830 None gnomAD-2.1.1 8.08E-06
6509 29 P/S 43 rs764314153 0.7830 None gnomAD-3.1.2 6.58E-06
6509 29 P/S 43 rs764314153 0.7830 None gnomAD-4.0.0 3.09976E-06
6510 30 I/T 44 rs775784361 0.2110 None gnomAD-2.1.1 4.04E-06
6510 30 I/T 44 rs775784361 0.2110 None gnomAD-3.1.2 6.57E-06
6510 30 I/T 44 rs775784361 0.2110 None gnomAD-4.0.0 2.5641E-06
6510 30 I/V 44 rs761041978 0.2110 None gnomAD-2.1.1 1.43E-05
6510 30 I/V 44 rs761041978 0.2110 None gnomAD-3.1.2 2.63E-05
6510 30 I/V 44 rs761041978 0.2110 None gnomAD-4.0.0 3.84345E-05
6512 32 A/S 46 rs2079716781 0.3367 None gnomAD-4.0.0 1.36892E-06
6512 32 A/V 46 rs200902581 0.3367 None gnomAD-2.1.1 1.61E-05
6512 32 A/V 46 rs200902581 0.3367 None gnomAD-4.0.0 6.16005E-06
6514 34 W/C 48 None 0.1186 None gnomAD-4.0.0 4.79107E-06
6514 34 W/L 48 rs760007747 0.1186 None gnomAD-2.1.1 2.51E-05
6514 34 W/L 48 rs760007747 0.1186 None gnomAD-3.1.2 5.26E-05
6514 34 W/L 48 rs760007747 0.1186 None gnomAD-4.0.0 5.20729E-05
6516 36 K/E 50 rs1469339610 0.1555 None gnomAD-3.1.2 6.57E-06
6516 36 K/E 50 rs1469339610 0.1555 None gnomAD-4.0.0 6.57333E-06
6516 36 K/M 50 rs199796249 0.1555 None gnomAD-2.1.1 1.50381E-04
6516 36 K/M 50 rs199796249 0.1555 None gnomAD-3.1.2 2.4979E-04
6516 36 K/M 50 rs199796249 0.1555 None gnomAD-4.0.0 3.69456E-04
6517 37 D/G 51 rs904836264 0.5983 None gnomAD-4.0.0 1.36884E-06
6518 38 G/R 52 None 0.4165 None gnomAD-4.0.0 1.59247E-06
6519 39 K/I 55 None 0.7881 None gnomAD-4.0.0 2.40064E-06
6521 41 I/M 58 rs747626326 0.1292 None gnomAD-2.1.1 8.06E-06
6521 41 I/M 58 rs747626326 0.1292 None gnomAD-4.0.0 1.5924E-06
6521 41 I/T 58 rs769180915 0.1292 None gnomAD-2.1.1 4.03E-06
6521 41 I/T 58 rs769180915 0.1292 None gnomAD-4.0.0 1.59237E-06
6522 42 S/P 59 rs780721181 0.6734 None gnomAD-2.1.1 4.03E-06
6522 42 S/P 59 rs780721181 0.6734 None gnomAD-4.0.0 1.59238E-06
6522 42 S/Y 59 rs768370268 0.6734 None gnomAD-2.1.1 4.03E-06
6522 42 S/Y 59 rs768370268 0.6734 None gnomAD-3.1.2 6.57E-06
6522 42 S/Y 59 rs768370268 0.6734 None gnomAD-4.0.0 1.85969E-06
6523 43 T/A 70 rs1560756818 0.5274 None gnomAD-4.0.0 2.73774E-06
6523 43 T/P 70 None 0.5274 None gnomAD-4.0.0 6.84435E-07
6525 45 A/T 111 rs1578118075 0.8072 None gnomAD-4.0.0 1.59256E-06
6525 45 A/V 111 None 0.8072 None gnomAD-4.0.0 1.59254E-06
6528 48 R/K 122 rs779960008 0.6645 None gnomAD-2.1.1 4.03E-06
6528 48 R/K 122 rs779960008 0.6645 None gnomAD-4.0.0 1.59265E-06
6529 49 L/F 123 rs758456020 0.2709 None gnomAD-2.1.1 1.21E-05
6529 49 L/F 123 rs758456020 0.2709 None gnomAD-4.0.0 7.9629E-06
6530 50 V/A 125 rs1447296765 0.4755 None gnomAD-2.1.1 8.07E-06
6530 50 V/A 125 rs1447296765 0.4755 None gnomAD-4.0.0 4.7781E-06
6530 50 V/M 125 rs1215350767 0.4755 None gnomAD-2.1.1 3.19E-05
6530 50 V/M 125 rs1215350767 0.4755 None gnomAD-3.1.2 6.58E-06
6530 50 V/M 125 rs1215350767 0.4755 None gnomAD-4.0.0 6.57505E-06
6532 52 H/L 130 None 0.7168 None gnomAD-4.0.0 1.59275E-06
6533 53 E/D 131 None 0.4108 None gnomAD-4.0.0 1.59273E-06
6533 53 E/K 131 rs886042142 0.4108 None gnomAD-3.1.2 6.57E-06
6533 53 E/K 131 rs886042142 0.4108 None gnomAD-4.0.0 1.85978E-06
6533 53 E/Q 131 None 0.4108 None gnomAD-4.0.0 2.05346E-06
6535 55 S/T 135 None 0.2550 None gnomAD-4.0.0 6.84502E-07
6536 56 V/A 136 rs1344640559 0.1497 None gnomAD-2.1.1 3.19E-05
6536 56 V/A 136 rs1344640559 0.1497 None gnomAD-3.1.2 6.57E-06
6536 56 V/A 136 rs1344640559 0.1497 None gnomAD-4.0.0 6.57324E-06
6536 56 V/M 136 None 0.1497 None gnomAD-4.0.0 1.5929E-06
6537 57 S/P 137 None 0.1322 None gnomAD-4.0.0 1.20032E-06
6538 58 L/P 138 rs1376037086 0.0645 None gnomAD-4.0.0 4.77943E-06
6539 59 E/D 139 None 0.3688 None gnomAD-4.0.0 2.40065E-06
6540 60 V/A 140 rs1045155829 0.0946 None gnomAD-4.0.0 2.40064E-06
6540 60 V/I 140 rs1157784163 0.0946 None gnomAD-2.1.1 4.04E-06
6540 60 V/I 140 rs1157784163 0.0946 None gnomAD-3.1.2 6.57E-06
6540 60 V/I 140 rs1157784163 0.0946 None gnomAD-4.0.0 1.24006E-06
6541 61 N/D 141 rs1448829330 0.3949 None gnomAD-3.1.2 6.57E-06
6541 61 N/D 141 rs1448829330 0.3949 None gnomAD-4.0.0 6.57376E-06
6542 62 N/K 143 rs374003118 0.6083 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6083 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6083 None gnomAD-4.0.0 1.59365E-06
6543 63 L/M 144 rs1578117153 0.0978 None gnomAD-4.0.0 1.59379E-06
6548 68 T/I 151 None 0.3254 None gnomAD-4.0.0 6.84919E-07
6548 68 T/S 151 rs369899924 0.3254 None gnomAD-2.1.1 8.1E-06
6548 68 T/S 151 rs369899924 0.3254 None gnomAD-4.0.0 2.05476E-06
6550 70 N/D 153 rs1333479032 0.3784 None gnomAD-4.0.0 4.11047E-06
6551 71 Y/C 154 None 0.1126 None gnomAD-4.0.0 1.20032E-06
6551 71 Y/H 154 None 0.1126 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 0.3680 None gnomAD-3.1.2 6.57E-06
6554 74 K/R 157 rs2079687407 0.3680 None gnomAD-4.0.0 1.86322E-06
6555 75 V/L 158 rs753901455 0.1029 None gnomAD-4.0.0 2.33303E-05
6555 75 V/M 158 rs753901455 0.1029 None gnomAD-2.1.1 2.04E-05
6555 75 V/M 158 rs753901455 0.1029 None gnomAD-4.0.0 1.30375E-05
6556 76 S/L 159 rs2154306280 0.2773 None gnomAD-4.0.0 2.33534E-05
6556 76 S/P 159 None 0.2773 None gnomAD-4.0.0 1.6052E-06
6557 77 N/S 161 rs764245160 0.1464 None gnomAD-2.1.1 4.1E-06
6557 77 N/S 161 rs764245160 0.1464 None gnomAD-3.1.2 6.57E-06
6557 77 N/S 161 rs764245160 0.1464 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 0.3311 None gnomAD-4.0.0 1.61547E-06
6561 81 D/N 165 rs938213426 0.6145 None gnomAD-4.0.0 2.06911E-06
6562 82 D/V 166 None 0.2671 None gnomAD-4.0.0 4.87976E-06
6564 84 C/F 169 None 0.1093 None gnomAD-4.0.0 6.93134E-07
6566 86 G/A 172 rs1052515116 0.1476 None gnomAD-2.1.1 5.68E-05
6566 86 G/A 172 rs1052515116 0.1476 None gnomAD-3.1.2 2.63E-05
6566 86 G/A 172 rs1052515116 0.1476 None gnomAD-4.0.0 1.19719E-05
6566 86 G/D 172 rs1052515116 0.1476 None gnomAD-3.1.2 6.58E-06
6566 86 G/D 172 rs1052515116 0.1476 None gnomAD-4.0.0 5.04079E-06
6566 86 G/S 172 rs774723988 0.1476 None gnomAD-2.1.1 8.7E-06
6566 86 G/S 172 rs774723988 0.1476 None gnomAD-4.0.0 6.2682E-06
6567 87 I/S 173 None 0.5493 None gnomAD-4.0.0 7.01308E-07
6567 87 I/T 173 rs1355956536 0.5493 None gnomAD-2.1.1 4.52E-06
6567 87 I/T 173 rs1355956536 0.5493 None gnomAD-4.0.0 2.80523E-06
6567 87 I/V 173 rs1415509567 0.5493 None gnomAD-2.1.1 4.5E-06
6567 87 I/V 173 rs1415509567 0.5493 None gnomAD-4.0.0 1.40212E-06
6568 88 L/S 174 rs1297518586 0.1042 None gnomAD-4.0.0 1.69465E-06
6569 89 T/A 175 rs1428304417 0.2666 None gnomAD-2.1.1 4.61E-06
6569 89 T/A 175 rs1428304417 0.2666 None gnomAD-4.0.0 1.70176E-06
6569 89 T/I 175 None 0.2666 None gnomAD-4.0.0 1.70386E-06
6570 90 V/A 177 None 0.1215 None gnomAD-4.0.0 6.39828E-06