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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 P G P P T R L E P S D I T K D A V T L T W C E P D D D G G S P I T G Y W V E R L D P D T D K W V R C N K M P V K D T T Y R V K G L T N K K K Y R F R V L A E N L A G P G K P S K S T E P I L I K D P I D P P W P P G K P T V K D V G K T S V R L N W T K P E H D G G A K I E S Y V I E M L K T G T D E W V R V A E G V P T T Q H L L P G L M E G Q E Y S F R V R A V N K A G E S E P S E P S D P V L C R E K
P P G P P T R L E P S D I T K D A V T L T W C E P D D D G G S P I T G Y W V E R L D P D T D K W V R C N K M P V K D T T Y R V K G L T N K K K Y R F R V L A E N L A G P G K P S K S T E P I L I K D - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

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
16451 2 P/L 2 None 0.1199 None gnomAD-4.0.0 1.20032E-06
16451 2 P/S 2 rs1171196645 0.1199 None gnomAD-4.0.0 1.60592E-06
16452 3 G/D 3 None 0.2178 None gnomAD-4.0.0 1.20032E-06
16452 3 G/R 3 rs1408239835 0.2178 None gnomAD-2.1.1 4.1E-06
16452 3 G/R 3 rs1408239835 0.2178 None gnomAD-4.0.0 3.43566E-06
16453 4 P/L 4 rs376498195 0.3902 None gnomAD-2.1.1 1.45E-05
16453 4 P/L 4 rs376498195 0.3902 None gnomAD-3.1.2 1.32E-05
16453 4 P/L 4 rs376498195 0.3902 None gnomAD-4.0.0 5.16582E-06
16453 4 P/T 4 rs200121902 0.3902 None gnomAD-2.1.1 1.85035E-04
16453 4 P/T 4 rs200121902 0.3902 None gnomAD-3.1.2 5.39744E-04
16453 4 P/T 4 rs200121902 0.3902 None 1000 genomes 5.99042E-04
16453 4 P/T 4 rs200121902 0.3902 None gnomAD-4.0.0 9.64065E-05
16454 5 P/Q 5 None 0.1244 None gnomAD-4.0.0 1.60554E-06
16455 6 T/A 6 rs374543277 0.3001 None gnomAD-2.1.1 4.72E-05
16455 6 T/A 6 rs374543277 0.3001 None gnomAD-3.1.2 8.56E-05
16455 6 T/A 6 rs374543277 0.3001 None gnomAD-4.0.0 1.10704E-04
16455 6 T/S 6 rs1189196149 0.3001 None gnomAD-2.1.1 4.1E-06
16455 6 T/S 6 rs1189196149 0.3001 None gnomAD-4.0.0 1.60486E-06
16456 7 R/C 7 rs727504986 0.7338 None gnomAD-2.1.1 1.09E-05
16456 7 R/C 7 rs727504986 0.7338 None gnomAD-3.1.2 1.97E-05
16456 7 R/C 7 rs727504986 0.7338 None gnomAD-4.0.0 9.32791E-06
16456 7 R/H 7 rs768914789 0.7338 None gnomAD-2.1.1 5.45E-05
16456 7 R/H 7 rs768914789 0.7338 None gnomAD-3.1.2 5.27E-05
16456 7 R/H 7 rs768914789 0.7338 None gnomAD-4.0.0 3.04784E-05
16456 7 R/L 7 rs768914789 0.7338 None gnomAD-2.1.1 8.2E-06
16456 7 R/L 7 rs768914789 0.7338 None gnomAD-3.1.2 1.32E-05
16456 7 R/L 7 rs768914789 0.7338 None gnomAD-4.0.0 3.11004E-06
16457 8 L/P 9 None 0.2079 None gnomAD-4.0.0 1.6036E-06
16460 11 S/C 13 rs397517596 0.3383 None gnomAD-2.1.1 1.63E-05
16460 11 S/C 13 rs397517596 0.3383 None gnomAD-3.1.2 6.58E-06
16460 11 S/C 13 rs397517596 0.3383 None gnomAD-4.0.0 2.36007E-05
16461 12 D/G 14 None 0.6271 None gnomAD-4.0.0 1.20032E-06
16462 13 I/V 15 None 0.3069 None gnomAD-4.0.0 1.59975E-06
16463 14 T/I 16 rs541307234 0.3049 None gnomAD-4.0.0 6.85616E-07
16463 14 T/N 16 None 0.3049 None gnomAD-2.1.1 1.63E-05
16463 14 T/N 16 None 0.3049 None gnomAD-3.1.2 6.58E-06
16463 14 T/N 16 None 0.3049 None 1000 genomes 1.99681E-04
16463 14 T/N 16 None 0.3049 None gnomAD-4.0.0 6.82967E-06
16463 14 T/S 16 rs541307234 0.3049 None gnomAD-2.1.1 4.07E-06
16463 14 T/S 16 rs541307234 0.3049 None gnomAD-3.1.2 6.58E-06
16463 14 T/S 16 rs541307234 0.3049 None gnomAD-4.0.0 6.58068E-06
16465 16 D/E 18 None 0.5056 None gnomAD-4.0.0 6.85522E-07
16466 17 A/S 19 None 0.1230 None gnomAD-4.0.0 6.85563E-07
16466 17 A/T 19 rs755998484 0.1230 None gnomAD-2.1.1 4.07E-06
16466 17 A/T 19 rs755998484 0.1230 None gnomAD-3.1.2 6.58E-06
16466 17 A/T 19 rs755998484 0.1230 None gnomAD-4.0.0 2.48357E-06
16467 18 V/A 20 rs780901860 0.1018 None gnomAD-2.1.1 4.06E-06
16467 18 V/A 20 rs780901860 0.1018 None gnomAD-4.0.0 4.79123E-06
16467 18 V/M 20 rs376161624 0.1018 None gnomAD-3.1.2 6.58E-06
16468 19 T/I 21 rs1345455396 0.1686 None gnomAD-2.1.1 8.11E-06
16468 19 T/I 21 rs1345455396 0.1686 None gnomAD-4.0.0 4.79693E-06
16469 20 L/H 22 rs72677245 0.0997 None gnomAD-2.1.1 3.13247E-04
16469 20 L/H 22 rs72677245 0.0997 None gnomAD-3.1.2 5.92E-05
16469 20 L/H 22 rs72677245 0.0997 None gnomAD-4.0.0 1.33659E-04
16469 20 L/P 22 None 0.0997 None gnomAD-4.0.0 1.59711E-06
16470 21 T/A 23 None 0.3515 None gnomAD-4.0.0 1.20044E-06
16470 21 T/P 23 None 0.3515 None gnomAD-4.0.0 2.40094E-06
16470 21 T/R 23 rs1403110773 0.3515 None gnomAD-2.1.1 4.05E-06
16470 21 T/R 23 rs1403110773 0.3515 None gnomAD-4.0.0 1.59644E-06
16471 22 W/C 24 rs202094100 0.1126 None gnomAD-2.1.1 3.877E-04
16471 22 W/C 24 rs202094100 0.1126 None gnomAD-3.1.2 3.75217E-04
16471 22 W/C 24 rs202094100 0.1126 MmD
Literature None
16471 22 W/C 24 rs202094100 0.1126 None gnomAD-4.0.0 6.85013E-07
16472 23 C/Y 25 rs766554662 0.2888 None gnomAD-2.1.1 4.04E-06
16472 23 C/Y 25 rs766554662 0.2888 None gnomAD-3.1.2 6.58E-06
16472 23 C/Y 25 rs766554662 0.2888 None gnomAD-4.0.0 3.72256E-06
16473 24 E/K 26 rs1422077520 0.5590 None gnomAD-2.1.1 4.04E-06
16473 24 E/K 26 rs1422077520 0.5590 None gnomAD-3.1.2 6.58E-06
16473 24 E/K 26 rs1422077520 0.5590 None gnomAD-4.0.0 2.56785E-06
16474 25 P/L 27 rs750487328 0.1574 None gnomAD-2.1.1 4.04E-06
16474 25 P/L 27 rs750487328 0.1574 None gnomAD-4.0.0 6.84901E-07
16474 25 P/R 27 None 0.1574 None gnomAD-4.0.0 2.0547E-06
16474 25 P/S 27 rs763053848 0.1574 None gnomAD-2.1.1 4.04E-06
16474 25 P/S 27 rs763053848 0.1574 None gnomAD-4.0.0 5.47929E-06
16474 25 P/T 27 rs763053848 0.1574 None gnomAD-2.1.1 4.04E-06
16474 25 P/T 27 rs763053848 0.1574 None gnomAD-4.0.0 6.84911E-07
16475 26 D/N 28 rs1246365092 1.0626 None gnomAD-2.1.1 4.04E-06
16475 26 D/N 28 rs1246365092 1.0626 None gnomAD-4.0.0 4.79447E-06
16476 27 D/E 29 None 0.5930 None gnomAD-4.0.0 1.20032E-06
16476 27 D/N 29 None 0.5930 None gnomAD-4.0.0 3.60097E-06
16477 28 D/E 30 rs762353962 0.2919 None gnomAD-2.1.1 4.03E-06
16477 28 D/E 30 rs762353962 0.2919 None gnomAD-4.0.0 1.59412E-06
16477 28 D/G 30 rs765432965 0.2919 None gnomAD-2.1.1 8.07E-06
16477 28 D/G 30 rs765432965 0.2919 None gnomAD-4.0.0 3.18867E-06
16477 28 D/N 30 rs1219575984 0.2919 None gnomAD-4.0.0 1.5943E-06
16478 29 G/D 31 None 0.4043 None gnomAD-4.0.0 1.5941E-06
16478 29 G/S 31 rs755810800 0.4043 None gnomAD-2.1.1 8.07E-06
16478 29 G/S 31 rs755810800 0.4043 None gnomAD-4.0.0 1.84882E-05
16479 30 G/D 32 rs2056796893 0.6113 None gnomAD-4.0.0 1.59419E-06
16480 31 S/R 33 None 0.2619 None gnomAD-4.0.0 1.59398E-06
16481 32 P/R 34 None 0.7122 None gnomAD-4.0.0 1.20033E-06
16481 32 P/S 34 None 0.7122 None gnomAD-4.0.0 1.20032E-06
16482 33 I/V 35 rs1029563364 0.1933 None gnomAD-3.1.2 6.58E-06
16482 33 I/V 35 rs1029563364 0.1933 None gnomAD-4.0.0 5.58158E-06
16483 34 T/K 36 rs1421106581 0.4062 None gnomAD-3.1.2 6.58E-06
16483 34 T/K 36 rs1421106581 0.4062 None gnomAD-4.0.0 6.58371E-06
16484 35 G/A 37 rs963478586 0.1108 None gnomAD-3.1.2 6.58E-06
16484 35 G/A 37 rs963478586 0.1108 None gnomAD-4.0.0 6.58363E-06
16484 35 G/R 37 rs878966291 0.1108 None gnomAD-4.0.0 6.84676E-07
16485 36 Y/C 38 rs1273890104 0.1021 None gnomAD-2.1.1 4.03E-06
16485 36 Y/C 38 rs1273890104 0.1021 None gnomAD-4.0.0 1.59377E-06
16485 36 Y/H 38 rs1362326640 0.1021 None gnomAD-2.1.1 4.03E-06
16485 36 Y/H 38 rs1362326640 0.1021 None gnomAD-4.0.0 1.36933E-06
16486 37 W/R 39 None 0.1856 None gnomAD-3.1.2 6.58E-06
16486 37 W/R 39 None 0.1856 None gnomAD-4.0.0 6.58371E-06
16486 37 W/S 39 rs774023517 0.1856 None gnomAD-2.1.1 4.03E-06
16486 37 W/S 39 rs774023517 0.1856 None gnomAD-4.0.0 3.18725E-06
16489 40 R/I 42 rs878912537 0.2281 None gnomAD-4.0.0 3.60099E-06
16491 42 D/G 44 rs1464618103 0.2018 None gnomAD-2.1.1 4.02E-06
16491 42 D/N 44 None 0.2018 None gnomAD-4.0.0 6.84644E-07
16491 42 D/Y 44 None 0.2018 None gnomAD-4.0.0 6.84644E-07
16492 43 P/A 50 None 0.3304 None gnomAD-4.0.0 2.40064E-06
16493 44 D/H 54 None 0.6891 None gnomAD-4.0.0 1.59363E-06
16494 45 T/K 60 rs1576450617 0.4741 None gnomAD-4.0.0 1.59374E-06
16495 46 D/H 63 rs1424817630 0.8082 None gnomAD-2.1.1 1.21E-05
16495 46 D/H 63 rs1424817630 0.8082 None gnomAD-4.0.0 4.78123E-06
16497 48 W/R 65 rs748070345 0.2669 None gnomAD-2.1.1 4.02E-06
16497 48 W/R 65 rs748070345 0.2669 None gnomAD-3.1.2 6.59E-06
16497 48 W/R 65 rs748070345 0.2669 None gnomAD-4.0.0 2.03059E-06
16498 49 V/F 66 None 0.3378 None gnomAD-4.0.0 6.84703E-07
16498 49 V/I 66 rs781046006 0.3378 None gnomAD-4.0.0 1.36941E-06
16499 50 R/K 67 None 0.4097 None gnomAD-4.0.0 5.47764E-06
16499 50 R/T 67 rs1479161212 0.4097 None gnomAD-2.1.1 4.02E-06
16499 50 R/T 67 rs1479161212 0.4097 None gnomAD-4.0.0 6.84705E-07
16500 51 C/Y 68 None 0.2187 None gnomAD-4.0.0 2.05418E-06
16502 53 K/N 70 None 1.0142 None gnomAD-4.0.0 1.59414E-06
16502 53 K/Q 70 None 1.0142 None gnomAD-4.0.0 1.59412E-06
16503 54 M/T 72 None 0.7426 None gnomAD-4.0.0 1.59411E-06
16506 57 K/R 83 rs1206461113 0.8673 None gnomAD-2.1.1 7.15E-06
16506 57 K/R 83 rs1206461113 0.8673 None gnomAD-3.1.2 6.58E-06
16506 57 K/R 83 rs1206461113 0.8673 None gnomAD-4.0.0 2.56686E-06
16507 58 D/E 88 None 0.7546 None gnomAD-4.0.0 1.20034E-06
16507 58 D/Y 88 None 0.7546 None gnomAD-4.0.0 6.84825E-07
16508 59 T/K 89 rs1429836100 0.2645 None gnomAD-4.0.0 7.97443E-06
16508 59 T/R 89 None 0.2645 None gnomAD-4.0.0 1.59489E-06
16509 60 T/S 90 rs779933778 0.4368 None gnomAD-2.1.1 4.03E-06
16509 60 T/S 90 rs779933778 0.4368 None gnomAD-3.1.2 6.58E-06
16509 60 T/S 90 rs779933778 0.4368 None gnomAD-4.0.0 6.57999E-06
16511 62 R/K 92 rs1372771873 0.3009 None gnomAD-2.1.1 4.03E-06
16511 62 R/K 92 rs1372771873 0.3009 None gnomAD-4.0.0 1.59581E-06
16512 63 V/L 93 rs2056682853 0.1544 None gnomAD-4.0.0 1.20194E-06
16514 65 G/D 96 rs776604541 0.5712 None gnomAD-4.0.0 1.60373E-06
16515 66 L/P 97 None 0.1358 None gnomAD-4.0.0 1.20052E-06
16515 66 L/V 97 rs1351046328 0.1358 None gnomAD-2.1.1 4.1E-06
16515 66 L/V 97 rs1351046328 0.1358 None gnomAD-4.0.0 1.60255E-06
16516 67 T/I 98 rs1373830216 0.4490 None gnomAD-3.1.2 6.58E-06
16516 67 T/I 98 rs1373830216 0.4490 None gnomAD-4.0.0 4.97044E-06
16517 68 N/D 99 rs1052305609 0.4179 None gnomAD-2.1.1 4.09E-06
16517 68 N/D 99 rs1052305609 0.4179 None gnomAD-3.1.2 6.58E-06
16517 68 N/D 99 rs1052305609 0.4179 None gnomAD-4.0.0 2.57504E-06
16519 70 K/E 102 None 0.3405 None gnomAD-4.0.0 2.7424E-06
16520 71 K/N 103 rs779658426 0.5278 None gnomAD-2.1.1 5.69E-05
16520 71 K/N 103 rs779658426 0.5278 None gnomAD-4.0.0 2.26238E-05
16521 72 Y/H 104 rs758275324 0.1363 None gnomAD-2.1.1 4.07E-06
16521 72 Y/H 104 rs758275324 0.1363 None gnomAD-4.0.0 2.05678E-06
16523 74 F/L 106 rs1553700258 0.1053 None gnomAD-4.0.0 1.59717E-06
16524 75 R/C 107 rs779336886 0.1446 None gnomAD-2.1.1 2.43E-05
16524 75 R/C 107 rs779336886 0.1446 None gnomAD-4.0.0 1.57619E-05
16524 75 R/H 107 rs757390152 0.1446 None gnomAD-2.1.1 1.62E-05
16524 75 R/H 107 rs757390152 0.1446 None gnomAD-3.1.2 1.32E-05
16524 75 R/H 107 rs757390152 0.1446 None gnomAD-4.0.0 1.55168E-05
16525 76 V/A 108 rs1159979005 0.0752 None gnomAD-2.1.1 4.05E-06
16525 76 V/A 108 rs1159979005 0.0752 None gnomAD-3.1.2 6.58E-06
16525 76 V/A 108 rs1159979005 0.0752 None gnomAD-4.0.0 2.56954E-06
16525 76 V/L 108 rs753821979 0.0752 None gnomAD-2.1.1 4.05E-06
16525 76 V/L 108 rs753821979 0.0752 None gnomAD-4.0.0 1.5967E-06
16528 79 E/K 111 None 0.2240 None gnomAD-4.0.0 6.85133E-07
16532 83 G/R 115 None 0.2034 None gnomAD-4.0.0 2.40064E-06
16533 84 P/S 117 rs756975730 0.5618 None gnomAD-2.1.1 4.04E-06
16533 84 P/S 117 rs756975730 0.5618 None gnomAD-3.1.2 6.59E-06
16533 84 P/S 117 rs756975730 0.5618 None gnomAD-4.0.0 5.58499E-06
16535 86 K/I 119 rs975321413 0.8165 None gnomAD-4.0.0 1.37035E-06
16535 86 K/Q 119 None 0.8165 None gnomAD-4.0.0 2.0555E-06
16536 87 P/S 120 None 0.3495 None gnomAD-4.0.0 6.85199E-07
16539 90 S/L 123 rs1037901670 0.3307 None gnomAD-4.0.0 3.19513E-06
16540 91 T/A 124 rs1179983336 0.1462 None gnomAD-2.1.1 8.11E-06
16540 91 T/A 124 rs1179983336 0.1462 None gnomAD-4.0.0 7.53934E-06
16540 91 T/I 124 rs1486530087 0.1462 None gnomAD-2.1.1 4.05E-06
16540 91 T/I 124 rs1486530087 0.1462 None gnomAD-3.1.2 6.58E-06
16540 91 T/I 124 rs1486530087 0.1462 None gnomAD-4.0.0 2.57113E-06
16543 94 I/T 127 rs753250455 0.1591 None gnomAD-2.1.1 1.44E-05
16543 94 I/T 127 rs753250455 0.1591 None gnomAD-3.1.2 6.58E-06
16543 94 I/T 127 rs753250455 0.1591 None gnomAD-4.0.0 3.10441E-06
16543 94 I/V 127 rs756519277 0.1591 None gnomAD-2.1.1 4.06E-06
16543 94 I/V 127 rs756519277 0.1591 None gnomAD-4.0.0 1.3712E-06
16545 96 I/V 130 None 0.0699 None gnomAD-4.0.0 1.20038E-06
16547 98 D/E 132 rs767765903 0.6890 None gnomAD-2.1.1 4.08E-06
16547 98 D/E 132 rs767765903 0.6890 None gnomAD-4.0.0 1.60075E-06
16547 98 D/N 132 None 0.6890 None gnomAD-4.0.0 6.85931E-07
16547 98 D/Y 132 None 0.6890 None gnomAD-4.0.0 2.74373E-06