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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 F F T K P L R N V D S V V N G T C R L D C K I A G S L P M R V S W F K D G K E I A A S D R Y R I A F V E G T A S L E I I R V D M N D A G N F T C R A T N S V G S K D S S G A L I V Q E P P S F V T K P G S K D V L P G S A V C L K S T F Q G S T P L T I R W F K G N K E L V S G G S C Y I T K E A L E S S L E L Y L V K T S D S G T Y T C K V S N V A G G V E C S A N L F V K
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P S F V T K P G S K D V L P G S A V C L K S T F Q G S T P L T I R W F K G N K E L V S G G S C Y I T K E A L E S S L E L Y L V K T S D S G T Y T C K V S N V A G G V E C S A N L F 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
5450 1 P/A 1 rs763896243 0.1572 None gnomAD-2.1.1 4.41E-06
5450 1 P/A 1 rs763896243 0.1572 None gnomAD-4.0.0 1.39204E-06
5450 1 P/S 1 None 0.1572 None gnomAD-4.0.0 6.96022E-07
5451 2 S/C 2 None 0.3071 None gnomAD-4.0.0 4.87252E-06
5451 2 S/G 2 rs760722200 0.3071 None gnomAD-2.1.1 1.94E-05
5451 2 S/G 2 rs760722200 0.3071 None gnomAD-3.1.2 2.63E-05
5451 2 S/G 2 rs760722200 0.3071 None gnomAD-4.0.0 2.70654E-05
5451 2 S/N 2 rs1365352148 0.3071 None gnomAD-2.1.1 4.42E-06
5451 2 S/N 2 rs1365352148 0.3071 None gnomAD-4.0.0 6.96205E-07
5452 3 F/V 3 None 0.2125 None gnomAD-4.0.0 1.64863E-06
5455 6 K/E 7 None 0.5720 None gnomAD-4.0.0 3.26803E-06
5456 7 P/A 8 None 0.2210 None gnomAD-4.0.0 2.07547E-06
5456 7 P/L 8 rs876658041 0.2210 None gnomAD-2.1.1 4.27E-06
5456 7 P/L 8 rs876658041 0.2210 None gnomAD-4.0.0 1.63298E-06
5457 8 G/S 9 rs774425875 0.4407 None gnomAD-2.1.1 2.25E-05
5457 8 G/S 9 rs774425875 0.4407 None gnomAD-4.0.0 1.38304E-05
5457 8 G/V 9 rs879144126 0.4407 None gnomAD-2.1.1 4.24E-06
5457 8 G/V 9 rs879144126 0.4407 None gnomAD-3.1.2 1.97E-05
5457 8 G/V 9 rs879144126 0.4407 None gnomAD-4.0.0 1.12575E-05
5460 11 D/G 14 None 0.6655 None gnomAD-4.0.0 1.62005E-06
5460 11 D/N 14 rs771075704 0.6655 None gnomAD-2.1.1 4.2E-06
5460 11 D/N 14 rs771075704 0.6655 None gnomAD-4.0.0 1.62156E-06
5461 12 V/A 16 None 0.1968 None gnomAD-4.0.0 1.20032E-06
5461 12 V/I 16 rs749477796 0.1968 None gnomAD-2.1.1 4.18E-06
5461 12 V/I 16 rs749477796 0.1968 None gnomAD-4.0.0 3.44203E-06
5462 13 L/P 18 None 0.7499 None gnomAD-4.0.0 1.37563E-06
5462 13 L/Q 18 rs778031659 0.7499 None gnomAD-2.1.1 4.16E-06
5462 13 L/Q 18 rs778031659 0.7499 None gnomAD-4.0.0 6.87817E-07
5463 14 P/S 23 rs748705824 0.4860 None gnomAD-2.1.1 4.14E-06
5463 14 P/S 23 rs748705824 0.4860 None gnomAD-4.0.0 1.37516E-06
5463 14 P/T 23 rs748705824 0.4860 None gnomAD-2.1.1 8.28E-06
5463 14 P/T 23 rs748705824 0.4860 None gnomAD-4.0.0 1.37516E-06
5464 15 G/A 24 rs377023302 0.2885 None gnomAD-2.1.1 8.77E-05
5464 15 G/A 24 rs377023302 0.2885 None gnomAD-3.1.2 4.6E-05
5464 15 G/A 24 rs377023302 0.2885 None 1000 genomes 1.99681E-04
5464 15 G/A 24 rs377023302 0.2885 None gnomAD-4.0.0 3.48483E-05
5464 15 G/D 24 None 0.2885 None gnomAD-4.0.0 2.06217E-06
5464 15 G/S 24 rs2080761564 0.2885 None gnomAD-4.0.0 1.60876E-06
5464 15 G/V 24 rs377023302 0.2885 None gnomAD-2.1.1 4.13E-06
5464 15 G/V 24 rs377023302 0.2885 None gnomAD-4.0.0 6.8739E-07
5466 17 A/T 26 None 0.5128 None gnomAD-4.0.0 1.37218E-06
5467 18 V/F 28 None 0.1870 None gnomAD-4.0.0 1.59912E-06
5468 19 C/S 29 rs1294705818 0.3052 None gnomAD-2.1.1 4.07E-06
5468 19 C/S 29 rs1294705818 0.3052 None gnomAD-3.1.2 1.31E-05
5468 19 C/S 29 rs1294705818 0.3052 None gnomAD-4.0.0 6.42125E-06
5468 19 C/W 29 rs944088736 0.3052 None gnomAD-2.1.1 4.06E-06
5468 19 C/W 29 rs944088736 0.3052 None gnomAD-4.0.0 1.596E-06
5471 22 S/G 33 rs757968547 0.0756 None gnomAD-2.1.1 4.05E-06
5471 22 S/G 33 rs757968547 0.0756 None gnomAD-4.0.0 3.18946E-06
5471 22 S/N 33 rs749906091 0.0756 None gnomAD-2.1.1 4.05E-06
5471 22 S/N 33 rs749906091 0.0756 None gnomAD-4.0.0 4.78435E-06
5472 23 T/I 34 rs911246876 0.1684 None gnomAD-4.0.0 1.59357E-06
5472 23 T/S 34 rs911246876 0.1684 None gnomAD-4.0.0 1.59357E-06
5474 25 Q/K 38 rs1462774944 0.4743 None gnomAD-2.1.1 3.19E-05
5474 25 Q/K 38 rs1462774944 0.4743 None gnomAD-3.1.2 6.58E-06
5474 25 Q/K 38 rs1462774944 0.4743 None gnomAD-4.0.0 1.86017E-06
5474 25 Q/R 38 None 0.4743 None gnomAD-4.0.0 1.20032E-06
5475 26 G/R 40 rs1232661197 0.2223 None gnomAD-4.0.0 2.40065E-06
5475 26 G/V 40 None 0.2223 None gnomAD-4.0.0 1.36899E-06
5476 27 S/T 41 None 0.2575 None gnomAD-4.0.0 8.40227E-06
5476 27 S/Y 41 None 0.2575 None gnomAD-4.0.0 1.59239E-06
5477 28 T/I 42 rs2080755955 0.6370 None gnomAD-3.1.2 6.57E-06
5477 28 T/I 42 rs2080755955 0.6370 None gnomAD-4.0.0 1.23974E-06
5477 28 T/P 42 rs756878354 0.6370 None gnomAD-2.1.1 4.04E-06
5477 28 T/P 42 rs756878354 0.6370 None gnomAD-3.1.2 6.59E-06
5477 28 T/P 42 rs756878354 0.6370 None gnomAD-4.0.0 6.58605E-06
5478 29 P/L 43 rs1391157831 0.7809 None gnomAD-2.1.1 4.04E-06
5478 29 P/L 43 rs1391157831 0.7809 None gnomAD-4.0.0 1.59225E-06
5478 29 P/S 43 rs1302659663 0.7809 None gnomAD-2.1.1 8.07E-06
5478 29 P/S 43 rs1302659663 0.7809 None gnomAD-4.0.0 2.05318E-06
5480 31 T/K 45 rs753485630 0.5329 None gnomAD-2.1.1 4.84E-05
5480 31 T/K 45 rs753485630 0.5329 None gnomAD-4.0.0 1.27344E-05
5480 31 T/R 45 None 0.5329 None gnomAD-4.0.0 1.59179E-06
5481 32 I/F 46 None 0.1519 None gnomAD-4.0.0 1.59175E-06
5482 33 R/G 47 rs1261601154 0.4572 None gnomAD-3.1.2 6.57E-06
5482 33 R/G 47 rs1261601154 0.4572 None gnomAD-4.0.0 2.47918E-06
5483 34 W/R 48 rs72648938 0.1274 None gnomAD-4.0.0 1.36861E-06
5486 37 G/D 51 None 0.3616 None gnomAD-4.0.0 2.40064E-06
5486 37 G/S 51 rs1430669284 0.3616 None gnomAD-2.1.1 4.03E-06
5486 37 G/S 51 rs1430669284 0.3616 None gnomAD-4.0.0 1.36856E-06
5487 38 N/D 52 None 1.0911 None gnomAD-4.0.0 6.8426E-07
5487 38 N/H 52 rs2080751190 1.0911 None gnomAD-3.1.2 6.57E-06
5487 38 N/H 52 rs2080751190 1.0911 None gnomAD-4.0.0 1.23951E-06
5487 38 N/K 52 None 1.0911 None gnomAD-4.0.0 1.59156E-06
5487 38 N/S 52 rs2080750786 1.0911 None gnomAD-3.1.2 1.31E-05
5487 38 N/S 52 rs2080750786 1.0911 None gnomAD-4.0.0 3.84387E-06
5488 39 K/E 55 None 0.7255 None gnomAD-4.0.0 3.18307E-06
5488 39 K/N 55 rs760521859 0.7255 None gnomAD-2.1.1 5.24E-05
5488 39 K/N 55 rs760521859 0.7255 None gnomAD-3.1.2 1.97E-05
5488 39 K/N 55 rs760521859 0.7255 None gnomAD-4.0.0 1.17751E-05
5488 39 K/R 55 None 0.7255 None gnomAD-4.0.0 1.59155E-06
5489 40 E/D 56 None 0.2652 None gnomAD-4.0.0 6.84254E-07
5489 40 E/K 56 rs1171851091 0.2652 None gnomAD-2.1.1 4.03E-06
5490 41 L/P 58 None 0.2045 None gnomAD-4.0.0 2.40064E-06
5490 41 L/V 58 None 0.2045 None gnomAD-4.0.0 6.84262E-07
5491 42 V/A 59 None 0.7735 None gnomAD-4.0.0 1.20032E-06
5491 42 V/L 59 rs1460594860 0.7735 None gnomAD-2.1.1 4.03E-06
5491 42 V/L 59 rs1460594860 0.7735 None gnomAD-3.1.2 1.31E-05
5491 42 V/L 59 rs1460594860 0.7735 None gnomAD-4.0.0 6.40567E-06
5492 43 S/F 70 rs1162269961 0.4258 None gnomAD-3.1.2 6.58E-06
5492 43 S/F 70 rs1162269961 0.4258 None gnomAD-4.0.0 2.56274E-06
5492 43 S/P 70 None 0.4258 None gnomAD-4.0.0 2.40064E-06
5493 44 G/D 73 rs1418252439 0.4762 None gnomAD-2.1.1 4.03E-06
5493 44 G/D 73 rs1418252439 0.4762 None gnomAD-3.1.2 1.97E-05
5493 44 G/D 73 rs1418252439 0.4762 None gnomAD-4.0.0 4.06003E-06
5493 44 G/S 73 rs377042940 0.4762 None gnomAD-2.1.1 1.03706E-04
5493 44 G/S 73 rs377042940 0.4762 None gnomAD-3.1.2 2.36777E-04
5493 44 G/S 73 rs377042940 0.4762 None 1000 genomes 3.99361E-04
5493 44 G/S 73 rs377042940 0.4762 None gnomAD-4.0.0 4.27613E-05
5494 45 G/R 102 rs727504697 0.7394 None gnomAD-2.1.1 3.93E-05
5494 45 G/R 102 rs727504697 0.7394 None gnomAD-3.1.2 3.95E-05
5494 45 G/R 102 rs727504697 0.7394 None gnomAD-4.0.0 1.05361E-05
5495 46 S/G 115 None 0.5753 None gnomAD-4.0.0 1.20032E-06
5495 46 S/N 115 rs1183828555 0.5753 None gnomAD-2.1.1 4.03E-06
5495 46 S/N 115 rs1183828555 0.5753 None gnomAD-4.0.0 1.36851E-06
5495 46 S/T 115 rs1183828555 0.5753 None gnomAD-2.1.1 4.03E-06
5496 47 C/Y 121 rs373848201 0.1876 None gnomAD-2.1.1 8.06E-06
5496 47 C/Y 121 rs373848201 0.1876 None gnomAD-3.1.2 6.58E-06
5496 47 C/Y 121 rs373848201 0.1876 None gnomAD-4.0.0 2.56283E-06
5497 48 Y/C 122 rs946624122 0.6291 None gnomAD-4.0.0 4.78982E-06
5497 48 Y/H 122 rs1279249843 0.6291 None gnomAD-2.1.1 4.03E-06
5497 48 Y/H 122 rs1279249843 0.6291 None gnomAD-3.1.2 6.57E-06
5497 48 Y/H 122 rs1279249843 0.6291 None gnomAD-4.0.0 3.84389E-06
5497 48 Y/N 122 rs1279249843 0.6291 None gnomAD-2.1.1 4.03E-06
5497 48 Y/N 122 rs1279249843 0.6291 None gnomAD-4.0.0 1.59155E-06
5499 50 T/S 125 rs774316553 0.3459 None gnomAD-2.1.1 4.03E-06
5499 50 T/S 125 rs774316553 0.3459 None gnomAD-4.0.0 1.59156E-06
5501 52 E/K 130 None 0.6806 None gnomAD-4.0.0 6.84262E-07
5502 53 A/G 131 None 0.5759 None gnomAD-4.0.0 6.84268E-07
5502 53 A/V 131 rs1257068950 0.5759 None gnomAD-2.1.1 4.03E-06
5502 53 A/V 131 rs1257068950 0.5759 None gnomAD-4.0.0 1.16326E-05
5504 55 E/D 135 None 0.2511 None gnomAD-4.0.0 1.20032E-06
5504 55 E/G 135 rs1038822352 0.2511 None gnomAD-4.0.0 6.84267E-07
5504 55 E/K 135 rs2080741049 0.2511 None gnomAD-3.1.2 6.57E-06
5504 55 E/K 135 rs2080741049 0.2511 None gnomAD-4.0.0 6.57315E-06
5504 55 E/Q 135 None 0.2511 None gnomAD-4.0.0 1.20032E-06
5504 55 E/V 135 rs1038822352 0.2511 None gnomAD-2.1.1 4.03E-06
5504 55 E/V 135 rs1038822352 0.2511 None gnomAD-3.1.2 1.97E-05
5504 55 E/V 135 rs1038822352 0.2511 None gnomAD-4.0.0 4.95802E-06
5505 56 S/N 136 rs2080739721 0.0886 None gnomAD-4.0.0 1.59157E-06
5506 57 S/A 137 None 0.1620 None gnomAD-4.0.0 1.20032E-06
5506 57 S/F 137 rs201125295 0.1620 None gnomAD-2.1.1 2.01E-05
5506 57 S/F 137 rs201125295 0.1620 None gnomAD-3.1.2 3.95E-05
5506 57 S/F 137 rs201125295 0.1620 None gnomAD-4.0.0 4.89621E-05
5508 59 E/G 139 None 0.3135 None gnomAD-4.0.0 1.20032E-06
5510 61 Y/C 141 rs72648939 0.4392 None gnomAD-2.1.1 2.21299E-03
5510 61 Y/C 141 rs72648939 0.4392 None gnomAD-3.1.2 1.20257E-03
5510 61 Y/C 141 rs72648939 0.4392 None 1000 genomes 6.78914E-03
5510 61 Y/C 141 rs72648939 0.4392 None gnomAD-4.0.0 8.30995E-04
5510 61 Y/F 141 None 0.4392 None gnomAD-4.0.0 1.36852E-06
5512 63 V/I 144 None 0.1093 None gnomAD-4.0.0 1.59154E-06
5513 64 K/N 145 None 0.6563 None gnomAD-4.0.0 1.20032E-06
5514 65 T/I 146 None 0.5777 None gnomAD-4.0.0 1.59152E-06
5514 65 T/N 146 rs2080735339 0.5777 None gnomAD-3.1.2 6.57E-06
5514 65 T/N 146 rs2080735339 0.5777 None gnomAD-4.0.0 6.57255E-06
5516 67 D/G 149 None 0.2916 None gnomAD-4.0.0 1.20032E-06
5516 67 D/Y 149 rs72648940 0.2916 None gnomAD-2.1.1 5.21779E-04
5516 67 D/Y 149 rs72648940 0.2916 None gnomAD-3.1.2 3.81123E-04
5516 67 D/Y 149 rs72648940 0.2916 None 1000 genomes 3.99361E-04
5516 67 D/Y 149 rs72648940 0.2916 None gnomAD-4.0.0 5.34162E-04
5517 68 S/A 151 rs200520316 0.1952 None gnomAD-2.1.1 8.86E-05
5517 68 S/A 151 rs200520316 0.1952 None gnomAD-3.1.2 1.31E-05
5517 68 S/A 151 rs200520316 0.1952 None 1000 genomes 1.99681E-04
5517 68 S/A 151 rs200520316 0.1952 None gnomAD-4.0.0 4.70959E-05
5517 68 S/L 151 rs769165258 0.1952 None gnomAD-2.1.1 5.36E-05
5517 68 S/L 151 rs769165258 0.1952 None gnomAD-3.1.2 4.6E-05
5517 68 S/L 151 rs769165258 0.1952 None gnomAD-4.0.0 1.92126E-05
5518 69 G/D 152 None 0.2464 None gnomAD-4.0.0 4.80129E-06
5519 70 T/K 153 None 0.3826 None gnomAD-4.0.0 6.84267E-07
5519 70 T/M 153 rs1048810880 0.3826 None gnomAD-2.1.1 1.21E-05
5519 70 T/M 153 rs1048810880 0.3826 None gnomAD-3.1.2 1.31E-05
5519 70 T/M 153 rs1048810880 0.3826 None gnomAD-4.0.0 1.42544E-05
5519 70 T/S 153 rs756756873 0.3826 None gnomAD-2.1.1 8.05E-06
5519 70 T/S 153 rs756756873 0.3826 None gnomAD-3.1.2 6.57E-06
5519 70 T/S 153 rs756756873 0.3826 None gnomAD-4.0.0 3.09862E-05
5520 71 Y/C 154 None 0.1515 None gnomAD-4.0.0 1.59156E-06
5521 72 T/A 155 rs777565819 0.1726 None gnomAD-2.1.1 4.02E-06
5521 72 T/A 155 rs777565819 0.1726 None gnomAD-4.0.0 1.36857E-06
5521 72 T/I 155 None 0.1726 None gnomAD-4.0.0 6.84278E-07
5521 72 T/K 155 None 0.1726 None gnomAD-4.0.0 6.84278E-07
5521 72 T/R 155 None 0.1726 None gnomAD-4.0.0 1.36856E-06
5522 73 C/G 156 rs2080729558 0.0668 None gnomAD-4.0.0 1.36858E-06
5522 73 C/S 156 None 0.0668 None gnomAD-4.0.0 1.36858E-06
5523 74 K/E 157 rs755764408 0.2385 None gnomAD-2.1.1 4.03E-06
5523 74 K/E 157 rs755764408 0.2385 None gnomAD-4.0.0 1.59185E-06
5524 75 V/I 158 None 0.1112 None gnomAD-4.0.0 1.59197E-06
5525 76 S/I 159 None 0.3171 None gnomAD-4.0.0 1.36918E-06
5525 76 S/R 159 None 0.3171 None gnomAD-4.0.0 1.59319E-06
5525 76 S/T 159 rs727503649 0.3171 None gnomAD-4.0.0 6.84592E-07
5526 77 N/D 161 rs752558197 0.1637 None gnomAD-4.0.0 3.42267E-06
5526 77 N/H 161 rs752558197 0.1637 None gnomAD-2.1.1 2.01E-05
5526 77 N/H 161 rs752558197 0.1637 None gnomAD-4.0.0 3.42267E-05
5526 77 N/S 161 rs767376352 0.1637 None gnomAD-2.1.1 8.06E-06
5526 77 N/S 161 rs767376352 0.1637 None gnomAD-3.1.2 1.31E-05
5526 77 N/S 161 rs767376352 0.1637 None gnomAD-4.0.0 6.41093E-06
5527 78 V/A 162 rs541467635 0.8426 None gnomAD-2.1.1 4.03E-06
5527 78 V/A 162 rs541467635 0.8426 None gnomAD-3.1.2 6.57E-06
5527 78 V/A 162 rs541467635 0.8426 None 1000 genomes 1.99681E-04
5527 78 V/A 162 rs541467635 0.8426 None gnomAD-4.0.0 6.56564E-06
5527 78 V/I 162 rs1334663895 0.8426 None gnomAD-2.1.1 4.03E-06
5527 78 V/I 162 rs1334663895 0.8426 None gnomAD-3.1.2 6.57E-06
5527 78 V/I 162 rs1334663895 0.8426 None gnomAD-4.0.0 5.12909E-06
5528 79 A/T 163 rs185753307 0.2967 None gnomAD-2.1.1 1.79E-05
5528 79 A/T 163 rs185753307 0.2967 None gnomAD-3.1.2 3.29E-05
5528 79 A/T 163 rs185753307 0.2967 None 1000 genomes 1.99681E-04
5528 79 A/T 163 rs185753307 0.2967 None gnomAD-4.0.0 1.42623E-05
5528 79 A/V 163 None 0.2967 None gnomAD-4.0.0 1.59402E-06
5529 80 G/R 164 None 0.2739 None gnomAD-4.0.0 1.59423E-06
5533 84 C/F 169 None 0.1634 None gnomAD-4.0.0 1.59869E-06
5534 85 S/G 171 None 0.4124 None gnomAD-4.0.0 1.20032E-06
5535 86 A/T 172 rs1442669083 0.1435 None gnomAD-2.1.1 3.18E-05
5535 86 A/T 172 rs1442669083 0.1435 None gnomAD-3.1.2 6.57E-06
5535 86 A/T 172 rs1442669083 0.1435 None gnomAD-4.0.0 3.10908E-06
5536 87 N/K 173 rs1386348152 0.5508 None gnomAD-2.1.1 4.07E-06
5536 87 N/K 173 rs1386348152 0.5508 None gnomAD-4.0.0 1.60937E-06
5536 87 N/S 173 rs1380672169 0.5508 None gnomAD-2.1.1 4.07E-06
5536 87 N/S 173 rs1380672169 0.5508 None gnomAD-4.0.0 1.6095E-06
5537 88 L/F 174 rs763076529 0.1370 None gnomAD-4.0.0 1.62702E-06
5539 90 V/A 177 rs773371925 0.0926 None gnomAD-2.1.1 4.15E-06
5539 90 V/A 177 rs773371925 0.0926 None gnomAD-4.0.0 3.25629E-06
5539 90 V/I 177 rs2154310288 0.0926 None gnomAD-4.0.0 1.6287E-06