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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 0.1993 None gnomAD-3.1.2 6.57E-06
6481 1 P/S 1 rs73038342 0.1993 None 1000 genomes 1.99681E-04
6481 1 P/T 1 rs73038342 0.1993 None gnomAD-2.1.1 8.18E-05
6481 1 P/T 1 rs73038342 0.1993 None gnomAD-3.1.2 5.92E-05
6481 1 P/T 1 rs73038342 0.1993 None gnomAD-4.0.0 8.62227E-05
6482 2 S/P 2 rs1560758702 0.3661 None gnomAD-4.0.0 1.20032E-06
6483 3 F/L 3 rs373750655 0.1563 None gnomAD-2.1.1 2.58E-05
6483 3 F/L 3 rs373750655 0.1563 None gnomAD-3.1.2 6.57E-06
6483 3 F/L 3 rs373750655 0.1563 None gnomAD-4.0.0 3.81018E-05
6484 4 T/A 4 rs1425867664 0.4779 None gnomAD-2.1.1 4.28E-06
6484 4 T/A 4 rs1425867664 0.4779 None gnomAD-4.0.0 1.62217E-06
6485 5 K/R 5 None 0.3801 None gnomAD-4.0.0 1.20032E-06
6486 6 K/Q 7 None 0.4948 None gnomAD-4.0.0 1.619E-06
6486 6 K/R 7 rs1168625867 0.4948 None gnomAD-2.1.1 4.26E-06
6486 6 K/R 7 rs1168625867 0.4948 None gnomAD-3.1.2 6.57E-06
6486 6 K/R 7 rs1168625867 0.4948 None gnomAD-4.0.0 6.8615E-06
6487 7 L/I 8 None 0.2255 None gnomAD-4.0.0 6.89078E-07
6488 8 T/N 9 rs2079735151 0.7028 None gnomAD-4.0.0 1.61567E-06
6489 9 K/E 11 None 0.5423 None gnomAD-4.0.0 1.61465E-06
6490 10 M/I 13 rs746981434 0.1934 None gnomAD-2.1.1 4.21E-06
6490 10 M/I 13 rs746981434 0.1934 None gnomAD-4.0.0 4.83993E-06
6490 10 M/T 13 rs769527897 0.1934 None gnomAD-2.1.1 8.48E-06
6490 10 M/T 13 rs769527897 0.1934 None gnomAD-3.1.2 6.57E-06
6490 10 M/T 13 rs769527897 0.1934 None gnomAD-4.0.0 4.364E-06
6491 11 D/G 14 rs747741123 0.5042 None gnomAD-2.1.1 8.39E-06
6491 11 D/G 14 rs747741123 0.5042 None gnomAD-4.0.0 2.06356E-06
6491 11 D/N 14 rs2079733131 0.5042 None gnomAD-3.1.2 6.58E-06
6491 11 D/N 14 rs2079733131 0.5042 None gnomAD-4.0.0 6.5754E-06
6491 11 D/Y 14 None 0.5042 None gnomAD-4.0.0 1.20032E-06
6492 12 K/E 16 rs781106189 0.4081 None gnomAD-2.1.1 1.26E-05
6492 12 K/E 16 rs781106189 0.4081 None gnomAD-4.0.0 1.03148E-05
6494 14 L/R 23 rs376857772 0.3580 None gnomAD-2.1.1 9.52E-05
6494 14 L/R 23 rs376857772 0.3580 None gnomAD-3.1.2 5.91E-05
6494 14 L/R 23 rs376857772 0.3580 None 1000 genomes 3.99361E-04
6494 14 L/R 23 rs376857772 0.3580 None gnomAD-4.0.0 2.67282E-05
6495 15 G/A 24 rs182633829 0.2954 None gnomAD-2.1.1 4.13E-06
6495 15 G/A 24 rs182633829 0.2954 None gnomAD-3.1.2 6.58E-06
6495 15 G/A 24 rs182633829 0.2954 None 1000 genomes 1.99681E-04
6495 15 G/A 24 rs182633829 0.2954 None gnomAD-4.0.0 3.86666E-06
6495 15 G/D 24 rs182633829 0.2954 None gnomAD-3.1.2 6.58E-06
6495 15 G/D 24 rs182633829 0.2954 None gnomAD-4.0.0 6.57601E-06
6496 16 S/F 25 rs376604816 0.2577 None gnomAD-2.1.1 1.23E-05
6496 16 S/F 25 rs376604816 0.2577 None gnomAD-4.0.0 7.53771E-06
6497 17 S/C 26 None 0.3738 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 0.4925 None gnomAD-2.1.1 3.25E-05
6499 19 H/L 29 rs375173049 0.4925 None gnomAD-3.1.2 1.18312E-04
6499 19 H/L 29 rs375173049 0.4925 None gnomAD-4.0.0 1.79944E-05
6500 20 M/V 30 None 0.0974 None gnomAD-4.0.0 1.59478E-06
6502 22 C/Y 33 None 0.0878 None gnomAD-4.0.0 1.59346E-06
6503 23 K/E 34 None 0.2946 None gnomAD-4.0.0 1.59321E-06
6504 24 V/L 35 rs762156103 0.1338 None gnomAD-2.1.1 4.05E-06
6504 24 V/L 35 rs762156103 0.1338 None gnomAD-4.0.0 6.84548E-07
6505 25 S/F 38 rs1414011435 0.3383 None gnomAD-2.1.1 4.04E-06
6505 25 S/F 38 rs1414011435 0.3383 None gnomAD-4.0.0 1.593E-06
6506 26 G/D 40 rs1401335381 0.3587 None gnomAD-2.1.1 8.08E-06
6506 26 G/D 40 rs1401335381 0.3587 None gnomAD-4.0.0 2.05353E-06
6508 28 L/V 42 None 0.6722 None gnomAD-4.0.0 1.59281E-06
6509 29 P/L 43 None 0.7771 None gnomAD-4.0.0 1.20032E-06
6509 29 P/S 43 rs764314153 0.7771 None gnomAD-2.1.1 8.08E-06
6509 29 P/S 43 rs764314153 0.7771 None gnomAD-3.1.2 6.58E-06
6509 29 P/S 43 rs764314153 0.7771 None gnomAD-4.0.0 3.09976E-06
6510 30 I/T 44 rs775784361 0.2178 None gnomAD-2.1.1 4.04E-06
6510 30 I/T 44 rs775784361 0.2178 None gnomAD-3.1.2 6.57E-06
6510 30 I/T 44 rs775784361 0.2178 None gnomAD-4.0.0 2.5641E-06
6510 30 I/V 44 rs761041978 0.2178 None gnomAD-2.1.1 1.43E-05
6510 30 I/V 44 rs761041978 0.2178 None gnomAD-3.1.2 2.63E-05
6510 30 I/V 44 rs761041978 0.2178 None gnomAD-4.0.0 3.84345E-05
6512 32 A/S 46 rs2079716781 0.3288 None gnomAD-4.0.0 1.36892E-06
6512 32 A/V 46 rs200902581 0.3288 None gnomAD-2.1.1 1.61E-05
6512 32 A/V 46 rs200902581 0.3288 None gnomAD-4.0.0 6.16005E-06
6514 34 W/C 48 None 0.1183 None gnomAD-4.0.0 4.79107E-06
6514 34 W/L 48 rs760007747 0.1183 None gnomAD-2.1.1 2.51E-05
6514 34 W/L 48 rs760007747 0.1183 None gnomAD-3.1.2 5.26E-05
6514 34 W/L 48 rs760007747 0.1183 None gnomAD-4.0.0 5.20729E-05
6516 36 K/E 50 rs1469339610 0.1682 None gnomAD-3.1.2 6.57E-06
6516 36 K/E 50 rs1469339610 0.1682 None gnomAD-4.0.0 6.57333E-06
6516 36 K/M 50 rs199796249 0.1682 None gnomAD-2.1.1 1.50381E-04
6516 36 K/M 50 rs199796249 0.1682 None gnomAD-3.1.2 2.4979E-04
6516 36 K/M 50 rs199796249 0.1682 None gnomAD-4.0.0 3.69456E-04
6517 37 D/G 51 rs904836264 0.5989 None gnomAD-4.0.0 1.36884E-06
6518 38 G/R 52 None 0.4315 None gnomAD-4.0.0 1.59247E-06
6519 39 K/I 55 None 0.7860 None gnomAD-4.0.0 2.40064E-06
6521 41 I/M 58 rs747626326 0.1287 None gnomAD-2.1.1 8.06E-06
6521 41 I/M 58 rs747626326 0.1287 None gnomAD-4.0.0 1.5924E-06
6521 41 I/T 58 rs769180915 0.1287 None gnomAD-2.1.1 4.03E-06
6521 41 I/T 58 rs769180915 0.1287 None gnomAD-4.0.0 1.59237E-06
6522 42 S/P 59 rs780721181 0.6461 None gnomAD-2.1.1 4.03E-06
6522 42 S/P 59 rs780721181 0.6461 None gnomAD-4.0.0 1.59238E-06
6522 42 S/Y 59 rs768370268 0.6461 None gnomAD-2.1.1 4.03E-06
6522 42 S/Y 59 rs768370268 0.6461 None gnomAD-3.1.2 6.57E-06
6522 42 S/Y 59 rs768370268 0.6461 None gnomAD-4.0.0 1.85969E-06
6523 43 T/A 70 rs1560756818 0.6503 None gnomAD-4.0.0 2.73774E-06
6523 43 T/P 70 None 0.6503 None gnomAD-4.0.0 6.84435E-07
6525 45 A/T 111 rs1578118075 0.8040 None gnomAD-4.0.0 1.59256E-06
6525 45 A/V 111 None 0.8040 None gnomAD-4.0.0 1.59254E-06
6528 48 R/K 122 rs779960008 0.6853 None gnomAD-2.1.1 4.03E-06
6528 48 R/K 122 rs779960008 0.6853 None gnomAD-4.0.0 1.59265E-06
6529 49 L/F 123 rs758456020 0.2824 None gnomAD-2.1.1 1.21E-05
6529 49 L/F 123 rs758456020 0.2824 None gnomAD-4.0.0 7.9629E-06
6530 50 V/A 125 rs1447296765 0.4758 None gnomAD-2.1.1 8.07E-06
6530 50 V/A 125 rs1447296765 0.4758 None gnomAD-4.0.0 4.7781E-06
6530 50 V/M 125 rs1215350767 0.4758 None gnomAD-2.1.1 3.19E-05
6530 50 V/M 125 rs1215350767 0.4758 None gnomAD-3.1.2 6.58E-06
6530 50 V/M 125 rs1215350767 0.4758 None gnomAD-4.0.0 6.57505E-06
6532 52 H/L 130 None 0.7135 None gnomAD-4.0.0 1.59275E-06
6533 53 E/D 131 None 0.6720 None gnomAD-4.0.0 1.59273E-06
6533 53 E/K 131 rs886042142 0.6720 None gnomAD-3.1.2 6.57E-06
6533 53 E/K 131 rs886042142 0.6720 None gnomAD-4.0.0 1.85978E-06
6533 53 E/Q 131 None 0.6720 None gnomAD-4.0.0 2.05346E-06
6535 55 S/T 135 None 0.2215 None gnomAD-4.0.0 6.84502E-07
6536 56 V/A 136 rs1344640559 0.1467 None gnomAD-2.1.1 3.19E-05
6536 56 V/A 136 rs1344640559 0.1467 None gnomAD-3.1.2 6.57E-06
6536 56 V/A 136 rs1344640559 0.1467 None gnomAD-4.0.0 6.57324E-06
6536 56 V/M 136 None 0.1467 None gnomAD-4.0.0 1.5929E-06
6537 57 S/P 137 None 0.1247 None gnomAD-4.0.0 1.20032E-06
6538 58 L/P 138 rs1376037086 0.0643 None gnomAD-4.0.0 4.77943E-06
6539 59 E/D 139 None 0.3848 None gnomAD-4.0.0 2.40065E-06
6540 60 V/A 140 rs1045155829 0.0941 None gnomAD-4.0.0 2.40064E-06
6540 60 V/I 140 rs1157784163 0.0941 None gnomAD-2.1.1 4.04E-06
6540 60 V/I 140 rs1157784163 0.0941 None gnomAD-3.1.2 6.57E-06
6540 60 V/I 140 rs1157784163 0.0941 None gnomAD-4.0.0 1.24006E-06
6541 61 N/D 141 rs1448829330 0.3968 None gnomAD-3.1.2 6.57E-06
6541 61 N/D 141 rs1448829330 0.3968 None gnomAD-4.0.0 6.57376E-06
6542 62 N/K 143 rs374003118 0.6009 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6009 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.6009 None gnomAD-4.0.0 1.59365E-06
6543 63 L/M 144 rs1578117153 0.1015 None gnomAD-4.0.0 1.59379E-06
6548 68 T/I 151 None 0.3459 None gnomAD-4.0.0 6.84919E-07
6548 68 T/S 151 rs369899924 0.3459 None gnomAD-2.1.1 8.1E-06
6548 68 T/S 151 rs369899924 0.3459 None gnomAD-4.0.0 2.05476E-06
6550 70 N/D 153 rs1333479032 0.3901 None gnomAD-4.0.0 4.11047E-06
6551 71 Y/C 154 None 0.1196 None gnomAD-4.0.0 1.20032E-06
6551 71 Y/H 154 None 0.1196 None gnomAD-4.0.0 1.59671E-06
6553 73 C/F 156 None 0.0680 None gnomAD-4.0.0 1.60017E-06
6553 73 C/G 156 rs377449031 0.0680 None gnomAD-4.0.0 1.59863E-06
6553 73 C/R 156 rs377449031 0.0680 None gnomAD-2.1.1 4.07E-06
6553 73 C/R 156 rs377449031 0.0680 None gnomAD-4.0.0 1.59863E-06
6554 74 K/R 157 rs2079687407 0.3753 None gnomAD-3.1.2 6.57E-06
6554 74 K/R 157 rs2079687407 0.3753 None gnomAD-4.0.0 1.86322E-06
6555 75 V/L 158 rs753901455 0.1030 None gnomAD-4.0.0 2.33303E-05
6555 75 V/M 158 rs753901455 0.1030 None gnomAD-2.1.1 2.04E-05
6555 75 V/M 158 rs753901455 0.1030 None gnomAD-4.0.0 1.30375E-05
6556 76 S/L 159 rs2154306280 0.2747 None gnomAD-4.0.0 2.33534E-05
6556 76 S/P 159 None 0.2747 None gnomAD-4.0.0 1.6052E-06
6557 77 N/S 161 rs764245160 0.1969 None gnomAD-2.1.1 4.1E-06
6557 77 N/S 161 rs764245160 0.1969 None gnomAD-3.1.2 6.57E-06
6557 77 N/S 161 rs764245160 0.1969 None gnomAD-4.0.0 6.45303E-06
6558 78 V/I 162 rs879223660 0.9747 None gnomAD-2.1.1 4.11E-06
6558 78 V/I 162 rs879223660 0.9747 None gnomAD-3.1.2 3.29E-05
6558 78 V/I 162 rs879223660 0.9747 None gnomAD-4.0.0 3.73447E-06
6559 79 A/P 163 None 0.7141 None gnomAD-4.0.0 1.61547E-06
6561 81 D/N 165 rs938213426 0.6228 None gnomAD-4.0.0 2.06911E-06
6562 82 D/V 166 None 0.2572 None gnomAD-4.0.0 4.87976E-06
6564 84 C/F 169 None 0.1045 None gnomAD-4.0.0 6.93134E-07
6566 86 G/A 172 rs1052515116 0.1538 None gnomAD-2.1.1 5.68E-05
6566 86 G/A 172 rs1052515116 0.1538 None gnomAD-3.1.2 2.63E-05
6566 86 G/A 172 rs1052515116 0.1538 None gnomAD-4.0.0 1.19719E-05
6566 86 G/D 172 rs1052515116 0.1538 None gnomAD-3.1.2 6.58E-06
6566 86 G/D 172 rs1052515116 0.1538 None gnomAD-4.0.0 5.04079E-06
6566 86 G/S 172 rs774723988 0.1538 None gnomAD-2.1.1 8.7E-06
6566 86 G/S 172 rs774723988 0.1538 None gnomAD-4.0.0 6.2682E-06
6567 87 I/S 173 None 0.5262 None gnomAD-4.0.0 7.01308E-07
6567 87 I/T 173 rs1355956536 0.5262 None gnomAD-2.1.1 4.52E-06
6567 87 I/T 173 rs1355956536 0.5262 None gnomAD-4.0.0 2.80523E-06
6567 87 I/V 173 rs1415509567 0.5262 None gnomAD-2.1.1 4.5E-06
6567 87 I/V 173 rs1415509567 0.5262 None gnomAD-4.0.0 1.40212E-06
6568 88 L/S 174 rs1297518586 0.1077 None gnomAD-4.0.0 1.69465E-06
6569 89 T/A 175 rs1428304417 0.2561 None gnomAD-2.1.1 4.61E-06
6569 89 T/A 175 rs1428304417 0.2561 None gnomAD-4.0.0 1.70176E-06
6569 89 T/I 175 None 0.2561 None gnomAD-4.0.0 1.70386E-06
6570 90 V/A 177 None 0.1181 None gnomAD-4.0.0 6.39828E-06