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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
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 E P P S F L V K P G R Q Q A I P D S T V E F K A I L K G T P P F K I K W F K D D V E L V S G P K C F I G L E G S T S F L N L Y S V D A S K T G Q Y T C H V T N D V G S D S C T T M L L V T
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 0.1873 None gnomAD-3.1.2 6.57E-06
6481 1 P/S 1 rs73038342 0.1873 None 1000 genomes 1.99681E-04
6481 1 P/T 1 rs73038342 0.1873 None gnomAD-2.1.1 8.18E-05
6481 1 P/T 1 rs73038342 0.1873 None gnomAD-3.1.2 5.92E-05
6481 1 P/T 1 rs73038342 0.1873 None gnomAD-4.0.0 8.62227E-05
6482 2 S/P 2 rs1560758702 0.3423 None gnomAD-4.0.0 1.20032E-06
6483 3 F/L 3 rs373750655 0.1413 None gnomAD-2.1.1 2.58E-05
6483 3 F/L 3 rs373750655 0.1413 None gnomAD-3.1.2 6.57E-06
6483 3 F/L 3 rs373750655 0.1413 None gnomAD-4.0.0 3.81018E-05
6484 4 T/A 4 rs1425867664 0.4590 None gnomAD-2.1.1 4.28E-06
6484 4 T/A 4 rs1425867664 0.4590 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 0.4819 None gnomAD-4.0.0 1.619E-06
6486 6 K/R 7 rs1168625867 0.4819 None gnomAD-2.1.1 4.26E-06
6486 6 K/R 7 rs1168625867 0.4819 None gnomAD-3.1.2 6.57E-06
6486 6 K/R 7 rs1168625867 0.4819 None gnomAD-4.0.0 6.8615E-06
6487 7 L/I 8 None 0.1957 None gnomAD-4.0.0 6.89078E-07
6488 8 T/N 9 rs2079735151 0.6671 None gnomAD-4.0.0 1.61567E-06
6489 9 K/E 11 None 0.5010 None gnomAD-4.0.0 1.61465E-06
6490 10 M/I 13 rs746981434 0.1875 None gnomAD-2.1.1 4.21E-06
6490 10 M/I 13 rs746981434 0.1875 None gnomAD-4.0.0 4.83993E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-2.1.1 8.48E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-3.1.2 6.57E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-4.0.0 4.364E-06
6491 11 D/G 14 rs747741123 0.4587 None gnomAD-2.1.1 8.39E-06
6491 11 D/G 14 rs747741123 0.4587 None gnomAD-4.0.0 2.06356E-06
6491 11 D/N 14 rs2079733131 0.4587 None gnomAD-3.1.2 6.58E-06
6491 11 D/N 14 rs2079733131 0.4587 None gnomAD-4.0.0 6.5754E-06
6491 11 D/Y 14 None 0.4587 None gnomAD-4.0.0 1.20032E-06
6492 12 K/E 16 rs781106189 0.4096 None gnomAD-2.1.1 1.26E-05
6492 12 K/E 16 rs781106189 0.4096 None gnomAD-4.0.0 1.03148E-05
6494 14 L/R 23 rs376857772 0.3735 None gnomAD-2.1.1 9.52E-05
6494 14 L/R 23 rs376857772 0.3735 None gnomAD-3.1.2 5.91E-05
6494 14 L/R 23 rs376857772 0.3735 None 1000 genomes 3.99361E-04
6494 14 L/R 23 rs376857772 0.3735 None gnomAD-4.0.0 2.67282E-05
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-2.1.1 4.13E-06
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-3.1.2 6.58E-06
6495 15 G/A 24 rs182633829 0.3017 None 1000 genomes 1.99681E-04
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-4.0.0 3.86666E-06
6495 15 G/D 24 rs182633829 0.3017 None gnomAD-3.1.2 6.58E-06
6495 15 G/D 24 rs182633829 0.3017 None gnomAD-4.0.0 6.57601E-06
6496 16 S/F 25 rs376604816 0.2424 None gnomAD-2.1.1 1.23E-05
6496 16 S/F 25 rs376604816 0.2424 None gnomAD-4.0.0 7.53771E-06
6497 17 S/C 26 None 0.3793 None gnomAD-4.0.0 2.74095E-06
6498 18 I/T 28 None 0.1650 None gnomAD-4.0.0 4.79111E-06
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-2.1.1 3.25E-05
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-3.1.2 1.18312E-04
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-4.0.0 1.79944E-05
6500 20 M/V 30 None 0.0901 None gnomAD-4.0.0 1.59478E-06
6502 22 C/Y 33 None 0.0791 None gnomAD-4.0.0 1.59346E-06
6503 23 K/E 34 None 0.3817 None gnomAD-4.0.0 1.59321E-06
6504 24 V/L 35 rs762156103 0.1345 None gnomAD-2.1.1 4.05E-06
6504 24 V/L 35 rs762156103 0.1345 None gnomAD-4.0.0 6.84548E-07
6505 25 S/F 38 rs1414011435 0.3052 None gnomAD-2.1.1 4.04E-06
6505 25 S/F 38 rs1414011435 0.3052 None gnomAD-4.0.0 1.593E-06
6506 26 G/D 40 rs1401335381 0.3382 None gnomAD-2.1.1 8.08E-06
6506 26 G/D 40 rs1401335381 0.3382 None gnomAD-4.0.0 2.05353E-06
6508 28 L/V 42 None 0.7177 None gnomAD-4.0.0 1.59281E-06
6509 29 P/L 43 None 0.7639 None gnomAD-4.0.0 1.20032E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-2.1.1 8.08E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-3.1.2 6.58E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-4.0.0 3.09976E-06
6510 30 I/T 44 rs775784361 0.2215 None gnomAD-2.1.1 4.04E-06
6510 30 I/T 44 rs775784361 0.2215 None gnomAD-3.1.2 6.57E-06
6510 30 I/T 44 rs775784361 0.2215 None gnomAD-4.0.0 2.5641E-06
6510 30 I/V 44 rs761041978 0.2215 None gnomAD-2.1.1 1.43E-05
6510 30 I/V 44 rs761041978 0.2215 None gnomAD-3.1.2 2.63E-05
6510 30 I/V 44 rs761041978 0.2215 None gnomAD-4.0.0 3.84345E-05
6512 32 A/S 46 rs2079716781 0.3480 None gnomAD-4.0.0 1.36892E-06
6512 32 A/V 46 rs200902581 0.3480 None gnomAD-2.1.1 1.61E-05
6512 32 A/V 46 rs200902581 0.3480 None gnomAD-4.0.0 6.16005E-06
6514 34 W/C 48 None 0.1165 None gnomAD-4.0.0 4.79107E-06
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-2.1.1 2.51E-05
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-3.1.2 5.26E-05
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-4.0.0 5.20729E-05
6516 36 K/E 50 rs1469339610 0.1589 None gnomAD-3.1.2 6.57E-06
6516 36 K/E 50 rs1469339610 0.1589 None gnomAD-4.0.0 6.57333E-06
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-2.1.1 1.50381E-04
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-3.1.2 2.4979E-04
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-4.0.0 3.69456E-04
6517 37 D/G 51 rs904836264 0.5842 None gnomAD-4.0.0 1.36884E-06
6518 38 G/R 52 None 0.4216 None gnomAD-4.0.0 1.59247E-06
6519 39 K/I 55 None 0.7879 None gnomAD-4.0.0 2.40064E-06
6521 41 I/M 58 rs747626326 0.1233 None gnomAD-2.1.1 8.06E-06
6521 41 I/M 58 rs747626326 0.1233 None gnomAD-4.0.0 1.5924E-06
6521 41 I/T 58 rs769180915 0.1233 None gnomAD-2.1.1 4.03E-06
6521 41 I/T 58 rs769180915 0.1233 None gnomAD-4.0.0 1.59237E-06
6522 42 S/P 59 rs780721181 0.6695 None gnomAD-2.1.1 4.03E-06
6522 42 S/P 59 rs780721181 0.6695 None gnomAD-4.0.0 1.59238E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-2.1.1 4.03E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-3.1.2 6.57E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-4.0.0 1.85969E-06
6523 43 T/A 70 rs1560756818 0.5031 None gnomAD-4.0.0 2.73774E-06
6523 43 T/P 70 None 0.5031 None gnomAD-4.0.0 6.84435E-07
6525 45 A/T 111 rs1578118075 0.8089 None gnomAD-4.0.0 1.59256E-06
6525 45 A/V 111 None 0.8089 None gnomAD-4.0.0 1.59254E-06
6528 48 R/K 122 rs779960008 0.6555 None gnomAD-2.1.1 4.03E-06
6528 48 R/K 122 rs779960008 0.6555 None gnomAD-4.0.0 1.59265E-06
6529 49 L/F 123 rs758456020 0.2747 None gnomAD-2.1.1 1.21E-05
6529 49 L/F 123 rs758456020 0.2747 None gnomAD-4.0.0 7.9629E-06
6530 50 V/A 125 rs1447296765 0.4729 None gnomAD-2.1.1 8.07E-06
6530 50 V/A 125 rs1447296765 0.4729 None gnomAD-4.0.0 4.7781E-06
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-2.1.1 3.19E-05
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-3.1.2 6.58E-06
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-4.0.0 6.57505E-06
6532 52 H/L 130 None 0.7486 None gnomAD-4.0.0 1.59275E-06
6533 53 E/D 131 None 0.7618 None gnomAD-4.0.0 1.59273E-06
6533 53 E/K 131 rs886042142 0.7618 None gnomAD-3.1.2 6.57E-06
6533 53 E/K 131 rs886042142 0.7618 None gnomAD-4.0.0 1.85978E-06
6533 53 E/Q 131 None 0.7618 None gnomAD-4.0.0 2.05346E-06
6535 55 S/T 135 None 0.2301 None gnomAD-4.0.0 6.84502E-07
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-2.1.1 3.19E-05
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-3.1.2 6.57E-06
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-4.0.0 6.57324E-06
6536 56 V/M 136 None 0.1511 None gnomAD-4.0.0 1.5929E-06
6537 57 S/P 137 None 0.1276 None gnomAD-4.0.0 1.20032E-06
6538 58 L/P 138 rs1376037086 0.0611 None gnomAD-4.0.0 4.77943E-06
6539 59 E/D 139 None 0.3249 None gnomAD-4.0.0 2.40065E-06
6540 60 V/A 140 rs1045155829 0.0961 None gnomAD-4.0.0 2.40064E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-2.1.1 4.04E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-3.1.2 6.57E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-4.0.0 1.24006E-06
6541 61 N/D 141 rs1448829330 0.5120 None gnomAD-3.1.2 6.57E-06
6541 61 N/D 141 rs1448829330 0.5120 None gnomAD-4.0.0 6.57376E-06
6542 62 N/K 143 rs374003118 0.5998 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.5998 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.5998 None gnomAD-4.0.0 1.59365E-06
6543 63 L/M 144 rs1578117153 0.0998 None gnomAD-4.0.0 1.59379E-06
6548 68 T/I 151 None 0.3203 None gnomAD-4.0.0 6.84919E-07
6548 68 T/S 151 rs369899924 0.3203 None gnomAD-2.1.1 8.1E-06
6548 68 T/S 151 rs369899924 0.3203 None gnomAD-4.0.0 2.05476E-06
6550 70 N/D 153 rs1333479032 0.3899 None gnomAD-4.0.0 4.11047E-06
6551 71 Y/C 154 None 0.1094 None gnomAD-4.0.0 1.20032E-06
6551 71 Y/H 154 None 0.1094 None gnomAD-4.0.0 1.59671E-06
6553 73 C/F 156 None 0.0631 None gnomAD-4.0.0 1.60017E-06
6553 73 C/G 156 rs377449031 0.0631 None gnomAD-4.0.0 1.59863E-06
6553 73 C/R 156 rs377449031 0.0631 None gnomAD-2.1.1 4.07E-06
6553 73 C/R 156 rs377449031 0.0631 None gnomAD-4.0.0 1.59863E-06
6554 74 K/R 157 rs2079687407 0.3677 None gnomAD-3.1.2 6.57E-06
6554 74 K/R 157 rs2079687407 0.3677 None gnomAD-4.0.0 1.86322E-06
6555 75 V/L 158 rs753901455 0.0988 None gnomAD-4.0.0 2.33303E-05
6555 75 V/M 158 rs753901455 0.0988 None gnomAD-2.1.1 2.04E-05
6555 75 V/M 158 rs753901455 0.0988 None gnomAD-4.0.0 1.30375E-05
6556 76 S/L 159 rs2154306280 0.2682 None gnomAD-4.0.0 2.33534E-05
6556 76 S/P 159 None 0.2682 None gnomAD-4.0.0 1.6052E-06
6557 77 N/S 161 rs764245160 0.1828 None gnomAD-2.1.1 4.1E-06
6557 77 N/S 161 rs764245160 0.1828 None gnomAD-3.1.2 6.57E-06
6557 77 N/S 161 rs764245160 0.1828 None gnomAD-4.0.0 6.45303E-06
6558 78 V/I 162 rs879223660 0.9318 None gnomAD-2.1.1 4.11E-06
6558 78 V/I 162 rs879223660 0.9318 None gnomAD-3.1.2 3.29E-05
6558 78 V/I 162 rs879223660 0.9318 None gnomAD-4.0.0 3.73447E-06
6559 79 A/P 163 None 0.7067 None gnomAD-4.0.0 1.61547E-06
6561 81 D/N 165 rs938213426 0.6261 None gnomAD-4.0.0 2.06911E-06
6562 82 D/V 166 None 0.2578 None gnomAD-4.0.0 4.87976E-06
6564 84 C/F 169 None 0.0974 None gnomAD-4.0.0 6.93134E-07
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-2.1.1 5.68E-05
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-3.1.2 2.63E-05
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-4.0.0 1.19719E-05
6566 86 G/D 172 rs1052515116 0.1405 None gnomAD-3.1.2 6.58E-06
6566 86 G/D 172 rs1052515116 0.1405 None gnomAD-4.0.0 5.04079E-06
6566 86 G/S 172 rs774723988 0.1405 None gnomAD-2.1.1 8.7E-06
6566 86 G/S 172 rs774723988 0.1405 None gnomAD-4.0.0 6.2682E-06
6567 87 I/S 173 None 0.5261 None gnomAD-4.0.0 7.01308E-07
6567 87 I/T 173 rs1355956536 0.5261 None gnomAD-2.1.1 4.52E-06
6567 87 I/T 173 rs1355956536 0.5261 None gnomAD-4.0.0 2.80523E-06
6567 87 I/V 173 rs1415509567 0.5261 None gnomAD-2.1.1 4.5E-06
6567 87 I/V 173 rs1415509567 0.5261 None gnomAD-4.0.0 1.40212E-06
6568 88 L/S 174 rs1297518586 0.1039 None gnomAD-4.0.0 1.69465E-06
6569 89 T/A 175 rs1428304417 0.2431 None gnomAD-2.1.1 4.61E-06
6569 89 T/A 175 rs1428304417 0.2431 None gnomAD-4.0.0 1.70176E-06
6569 89 T/I 175 None 0.2431 None gnomAD-4.0.0 1.70386E-06
6570 90 V/A 177 None 0.0997 None gnomAD-4.0.0 6.39828E-06