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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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16451 2 P/L 2 None 0.1240 None gnomAD-4.0.0 1.20032E-06
16451 2 P/S 2 rs1171196645 0.1240 None gnomAD-4.0.0 1.60592E-06
16452 3 G/D 3 None 0.2252 None gnomAD-4.0.0 1.20032E-06
16452 3 G/R 3 rs1408239835 0.2252 None gnomAD-2.1.1 4.1E-06
16452 3 G/R 3 rs1408239835 0.2252 None gnomAD-4.0.0 3.43566E-06
16453 4 P/L 4 rs376498195 0.3890 None gnomAD-2.1.1 1.45E-05
16453 4 P/L 4 rs376498195 0.3890 None gnomAD-3.1.2 1.32E-05
16453 4 P/L 4 rs376498195 0.3890 None gnomAD-4.0.0 5.16582E-06
16453 4 P/T 4 rs200121902 0.3890 None gnomAD-2.1.1 1.85035E-04
16453 4 P/T 4 rs200121902 0.3890 None gnomAD-3.1.2 5.39744E-04
16453 4 P/T 4 rs200121902 0.3890 None 1000 genomes 5.99042E-04
16453 4 P/T 4 rs200121902 0.3890 None gnomAD-4.0.0 9.64065E-05
16454 5 P/Q 5 None 0.1227 None gnomAD-4.0.0 1.60554E-06
16455 6 T/A 6 rs374543277 0.3439 None gnomAD-2.1.1 4.72E-05
16455 6 T/A 6 rs374543277 0.3439 None gnomAD-3.1.2 8.56E-05
16455 6 T/A 6 rs374543277 0.3439 None gnomAD-4.0.0 1.10704E-04
16455 6 T/S 6 rs1189196149 0.3439 None gnomAD-2.1.1 4.1E-06
16455 6 T/S 6 rs1189196149 0.3439 None gnomAD-4.0.0 1.60486E-06
16456 7 R/C 7 rs727504986 0.7425 None gnomAD-2.1.1 1.09E-05
16456 7 R/C 7 rs727504986 0.7425 None gnomAD-3.1.2 1.97E-05
16456 7 R/C 7 rs727504986 0.7425 None gnomAD-4.0.0 9.32791E-06
16456 7 R/H 7 rs768914789 0.7425 None gnomAD-2.1.1 5.45E-05
16456 7 R/H 7 rs768914789 0.7425 None gnomAD-3.1.2 5.27E-05
16456 7 R/H 7 rs768914789 0.7425 None gnomAD-4.0.0 3.04784E-05
16456 7 R/L 7 rs768914789 0.7425 None gnomAD-2.1.1 8.2E-06
16456 7 R/L 7 rs768914789 0.7425 None gnomAD-3.1.2 1.32E-05
16456 7 R/L 7 rs768914789 0.7425 None gnomAD-4.0.0 3.11004E-06
16457 8 L/P 9 None 0.2067 None gnomAD-4.0.0 1.6036E-06
16460 11 S/C 13 rs397517596 0.3838 None gnomAD-2.1.1 1.63E-05
16460 11 S/C 13 rs397517596 0.3838 None gnomAD-3.1.2 6.58E-06
16460 11 S/C 13 rs397517596 0.3838 None gnomAD-4.0.0 2.36007E-05
16461 12 D/G 14 None 0.4491 None gnomAD-4.0.0 1.20032E-06
16462 13 I/V 15 None 0.3092 None gnomAD-4.0.0 1.59975E-06
16463 14 T/I 16 rs541307234 0.2464 None gnomAD-4.0.0 6.85616E-07
16463 14 T/N 16 None 0.2464 None gnomAD-2.1.1 1.63E-05
16463 14 T/N 16 None 0.2464 None gnomAD-3.1.2 6.58E-06
16463 14 T/N 16 None 0.2464 None 1000 genomes 1.99681E-04
16463 14 T/N 16 None 0.2464 None gnomAD-4.0.0 6.82967E-06
16463 14 T/S 16 rs541307234 0.2464 None gnomAD-2.1.1 4.07E-06
16463 14 T/S 16 rs541307234 0.2464 None gnomAD-3.1.2 6.58E-06
16463 14 T/S 16 rs541307234 0.2464 None gnomAD-4.0.0 6.58068E-06
16465 16 D/E 18 None 0.4029 None gnomAD-4.0.0 6.85522E-07
16466 17 A/S 19 None 0.0960 None gnomAD-4.0.0 6.85563E-07
16466 17 A/T 19 rs755998484 0.0960 None gnomAD-2.1.1 4.07E-06
16466 17 A/T 19 rs755998484 0.0960 None gnomAD-3.1.2 6.58E-06
16466 17 A/T 19 rs755998484 0.0960 None gnomAD-4.0.0 2.48357E-06
16467 18 V/A 20 rs780901860 0.0899 None gnomAD-2.1.1 4.06E-06
16467 18 V/A 20 rs780901860 0.0899 None gnomAD-4.0.0 4.79123E-06
16467 18 V/M 20 rs376161624 0.0899 None gnomAD-3.1.2 6.58E-06
16468 19 T/I 21 rs1345455396 0.1719 None gnomAD-2.1.1 8.11E-06
16468 19 T/I 21 rs1345455396 0.1719 None gnomAD-4.0.0 4.79693E-06
16469 20 L/H 22 rs72677245 0.0947 None gnomAD-2.1.1 3.13247E-04
16469 20 L/H 22 rs72677245 0.0947 None gnomAD-3.1.2 5.92E-05
16469 20 L/H 22 rs72677245 0.0947 None gnomAD-4.0.0 1.33659E-04
16469 20 L/P 22 None 0.0947 None gnomAD-4.0.0 1.59711E-06
16470 21 T/A 23 None 0.3377 None gnomAD-4.0.0 1.20044E-06
16470 21 T/P 23 None 0.3377 None gnomAD-4.0.0 2.40094E-06
16470 21 T/R 23 rs1403110773 0.3377 None gnomAD-2.1.1 4.05E-06
16470 21 T/R 23 rs1403110773 0.3377 None gnomAD-4.0.0 1.59644E-06
16471 22 W/C 24 rs202094100 0.1053 None gnomAD-2.1.1 3.877E-04
16471 22 W/C 24 rs202094100 0.1053 None gnomAD-3.1.2 3.75217E-04
16471 22 W/C 24 rs202094100 0.1053 MmD
Literature None
16471 22 W/C 24 rs202094100 0.1053 None gnomAD-4.0.0 6.85013E-07
16472 23 C/Y 25 rs766554662 0.2860 None gnomAD-2.1.1 4.04E-06
16472 23 C/Y 25 rs766554662 0.2860 None gnomAD-3.1.2 6.58E-06
16472 23 C/Y 25 rs766554662 0.2860 None gnomAD-4.0.0 3.72256E-06
16473 24 E/K 26 rs1422077520 0.5120 None gnomAD-2.1.1 4.04E-06
16473 24 E/K 26 rs1422077520 0.5120 None gnomAD-3.1.2 6.58E-06
16473 24 E/K 26 rs1422077520 0.5120 None gnomAD-4.0.0 2.56785E-06
16474 25 P/L 27 rs750487328 0.1700 None gnomAD-2.1.1 4.04E-06
16474 25 P/L 27 rs750487328 0.1700 None gnomAD-4.0.0 6.84901E-07
16474 25 P/R 27 None 0.1700 None gnomAD-4.0.0 2.0547E-06
16474 25 P/S 27 rs763053848 0.1700 None gnomAD-2.1.1 4.04E-06
16474 25 P/S 27 rs763053848 0.1700 None gnomAD-4.0.0 5.47929E-06
16474 25 P/T 27 rs763053848 0.1700 None gnomAD-2.1.1 4.04E-06
16474 25 P/T 27 rs763053848 0.1700 None gnomAD-4.0.0 6.84911E-07
16475 26 D/N 28 rs1246365092 1.1318 None gnomAD-2.1.1 4.04E-06
16475 26 D/N 28 rs1246365092 1.1318 None gnomAD-4.0.0 4.79447E-06
16476 27 D/E 29 None 0.6392 None gnomAD-4.0.0 1.20032E-06
16476 27 D/N 29 None 0.6392 None gnomAD-4.0.0 3.60097E-06
16477 28 D/E 30 rs762353962 0.2715 None gnomAD-2.1.1 4.03E-06
16477 28 D/E 30 rs762353962 0.2715 None gnomAD-4.0.0 1.59412E-06
16477 28 D/G 30 rs765432965 0.2715 None gnomAD-2.1.1 8.07E-06
16477 28 D/G 30 rs765432965 0.2715 None gnomAD-4.0.0 3.18867E-06
16477 28 D/N 30 rs1219575984 0.2715 None gnomAD-4.0.0 1.5943E-06
16478 29 G/D 31 None 0.4138 None gnomAD-4.0.0 1.5941E-06
16478 29 G/S 31 rs755810800 0.4138 None gnomAD-2.1.1 8.07E-06
16478 29 G/S 31 rs755810800 0.4138 None gnomAD-4.0.0 1.84882E-05
16479 30 G/D 32 rs2056796893 0.6218 None gnomAD-4.0.0 1.59419E-06
16480 31 S/R 33 None 0.2448 None gnomAD-4.0.0 1.59398E-06
16481 32 P/R 34 None 0.6831 None gnomAD-4.0.0 1.20033E-06
16481 32 P/S 34 None 0.6831 None gnomAD-4.0.0 1.20032E-06
16482 33 I/V 35 rs1029563364 0.1850 None gnomAD-3.1.2 6.58E-06
16482 33 I/V 35 rs1029563364 0.1850 None gnomAD-4.0.0 5.58158E-06
16483 34 T/K 36 rs1421106581 0.3709 None gnomAD-3.1.2 6.58E-06
16483 34 T/K 36 rs1421106581 0.3709 None gnomAD-4.0.0 6.58371E-06
16484 35 G/A 37 rs963478586 0.1010 None gnomAD-3.1.2 6.58E-06
16484 35 G/A 37 rs963478586 0.1010 None gnomAD-4.0.0 6.58363E-06
16484 35 G/R 37 rs878966291 0.1010 None gnomAD-4.0.0 6.84676E-07
16485 36 Y/C 38 rs1273890104 0.0905 None gnomAD-2.1.1 4.03E-06
16485 36 Y/C 38 rs1273890104 0.0905 None gnomAD-4.0.0 1.59377E-06
16485 36 Y/H 38 rs1362326640 0.0905 None gnomAD-2.1.1 4.03E-06
16485 36 Y/H 38 rs1362326640 0.0905 None gnomAD-4.0.0 1.36933E-06
16486 37 W/R 39 None 0.1827 None gnomAD-3.1.2 6.58E-06
16486 37 W/R 39 None 0.1827 None gnomAD-4.0.0 6.58371E-06
16486 37 W/S 39 rs774023517 0.1827 None gnomAD-2.1.1 4.03E-06
16486 37 W/S 39 rs774023517 0.1827 None gnomAD-4.0.0 3.18725E-06
16489 40 R/I 42 rs878912537 0.2069 None gnomAD-4.0.0 3.60099E-06
16491 42 D/G 44 rs1464618103 0.2002 None gnomAD-2.1.1 4.02E-06
16491 42 D/N 44 None 0.2002 None gnomAD-4.0.0 6.84644E-07
16491 42 D/Y 44 None 0.2002 None gnomAD-4.0.0 6.84644E-07
16492 43 P/A 50 None 0.2875 None gnomAD-4.0.0 2.40064E-06
16493 44 D/H 54 None 0.6740 None gnomAD-4.0.0 1.59363E-06
16494 45 T/K 60 rs1576450617 0.4711 None gnomAD-4.0.0 1.59374E-06
16495 46 D/H 63 rs1424817630 0.7905 None gnomAD-2.1.1 1.21E-05
16495 46 D/H 63 rs1424817630 0.7905 None gnomAD-4.0.0 4.78123E-06
16497 48 W/R 65 rs748070345 0.2714 None gnomAD-2.1.1 4.02E-06
16497 48 W/R 65 rs748070345 0.2714 None gnomAD-3.1.2 6.59E-06
16497 48 W/R 65 rs748070345 0.2714 None gnomAD-4.0.0 2.03059E-06
16498 49 V/F 66 None 0.3352 None gnomAD-4.0.0 6.84703E-07
16498 49 V/I 66 rs781046006 0.3352 None gnomAD-4.0.0 1.36941E-06
16499 50 R/K 67 None 0.4456 None gnomAD-4.0.0 5.47764E-06
16499 50 R/T 67 rs1479161212 0.4456 None gnomAD-2.1.1 4.02E-06
16499 50 R/T 67 rs1479161212 0.4456 None gnomAD-4.0.0 6.84705E-07
16500 51 C/Y 68 None 0.1987 None gnomAD-4.0.0 2.05418E-06
16502 53 K/N 70 None 1.0089 None gnomAD-4.0.0 1.59414E-06
16502 53 K/Q 70 None 1.0089 None gnomAD-4.0.0 1.59412E-06
16503 54 M/T 72 None 0.7256 None gnomAD-4.0.0 1.59411E-06
16506 57 K/R 83 rs1206461113 0.8545 None gnomAD-2.1.1 7.15E-06
16506 57 K/R 83 rs1206461113 0.8545 None gnomAD-3.1.2 6.58E-06
16506 57 K/R 83 rs1206461113 0.8545 None gnomAD-4.0.0 2.56686E-06
16507 58 D/E 88 None 0.7197 None gnomAD-4.0.0 1.20034E-06
16507 58 D/Y 88 None 0.7197 None gnomAD-4.0.0 6.84825E-07
16508 59 T/K 89 rs1429836100 0.2513 None gnomAD-4.0.0 7.97443E-06
16508 59 T/R 89 None 0.2513 None gnomAD-4.0.0 1.59489E-06
16509 60 T/S 90 rs779933778 0.3695 None gnomAD-2.1.1 4.03E-06
16509 60 T/S 90 rs779933778 0.3695 None gnomAD-3.1.2 6.58E-06
16509 60 T/S 90 rs779933778 0.3695 None gnomAD-4.0.0 6.57999E-06
16511 62 R/K 92 rs1372771873 0.3039 None gnomAD-2.1.1 4.03E-06
16511 62 R/K 92 rs1372771873 0.3039 None gnomAD-4.0.0 1.59581E-06
16512 63 V/L 93 rs2056682853 0.1220 None gnomAD-4.0.0 1.20194E-06
16514 65 G/D 96 rs776604541 0.5153 None gnomAD-4.0.0 1.60373E-06
16515 66 L/P 97 None 0.1086 None gnomAD-4.0.0 1.20052E-06
16515 66 L/V 97 rs1351046328 0.1086 None gnomAD-2.1.1 4.1E-06
16515 66 L/V 97 rs1351046328 0.1086 None gnomAD-4.0.0 1.60255E-06
16516 67 T/I 98 rs1373830216 0.4731 None gnomAD-3.1.2 6.58E-06
16516 67 T/I 98 rs1373830216 0.4731 None gnomAD-4.0.0 4.97044E-06
16517 68 N/D 99 rs1052305609 0.3311 None gnomAD-2.1.1 4.09E-06
16517 68 N/D 99 rs1052305609 0.3311 None gnomAD-3.1.2 6.58E-06
16517 68 N/D 99 rs1052305609 0.3311 None gnomAD-4.0.0 2.57504E-06
16519 70 K/E 102 None 0.3627 None gnomAD-4.0.0 2.7424E-06
16520 71 K/N 103 rs779658426 0.5178 None gnomAD-2.1.1 5.69E-05
16520 71 K/N 103 rs779658426 0.5178 None gnomAD-4.0.0 2.26238E-05
16521 72 Y/H 104 rs758275324 0.1110 None gnomAD-2.1.1 4.07E-06
16521 72 Y/H 104 rs758275324 0.1110 None gnomAD-4.0.0 2.05678E-06
16523 74 F/L 106 rs1553700258 0.0956 None gnomAD-4.0.0 1.59717E-06
16524 75 R/C 107 rs779336886 0.1479 None gnomAD-2.1.1 2.43E-05
16524 75 R/C 107 rs779336886 0.1479 None gnomAD-4.0.0 1.57619E-05
16524 75 R/H 107 rs757390152 0.1479 None gnomAD-2.1.1 1.62E-05
16524 75 R/H 107 rs757390152 0.1479 None gnomAD-3.1.2 1.32E-05
16524 75 R/H 107 rs757390152 0.1479 None gnomAD-4.0.0 1.55168E-05
16525 76 V/A 108 rs1159979005 0.0724 None gnomAD-2.1.1 4.05E-06
16525 76 V/A 108 rs1159979005 0.0724 None gnomAD-3.1.2 6.58E-06
16525 76 V/A 108 rs1159979005 0.0724 None gnomAD-4.0.0 2.56954E-06
16525 76 V/L 108 rs753821979 0.0724 None gnomAD-2.1.1 4.05E-06
16525 76 V/L 108 rs753821979 0.0724 None gnomAD-4.0.0 1.5967E-06
16528 79 E/K 111 None 0.1694 None gnomAD-4.0.0 6.85133E-07
16532 83 G/R 115 None 0.1842 None gnomAD-4.0.0 2.40064E-06
16533 84 P/S 117 rs756975730 0.5006 None gnomAD-2.1.1 4.04E-06
16533 84 P/S 117 rs756975730 0.5006 None gnomAD-3.1.2 6.59E-06
16533 84 P/S 117 rs756975730 0.5006 None gnomAD-4.0.0 5.58499E-06
16535 86 K/I 119 rs975321413 0.8265 None gnomAD-4.0.0 1.37035E-06
16535 86 K/Q 119 None 0.8265 None gnomAD-4.0.0 2.0555E-06
16536 87 P/S 120 None 0.3352 None gnomAD-4.0.0 6.85199E-07
16539 90 S/L 123 rs1037901670 0.3934 None gnomAD-4.0.0 3.19513E-06
16540 91 T/A 124 rs1179983336 0.1578 None gnomAD-2.1.1 8.11E-06
16540 91 T/A 124 rs1179983336 0.1578 None gnomAD-4.0.0 7.53934E-06
16540 91 T/I 124 rs1486530087 0.1578 None gnomAD-2.1.1 4.05E-06
16540 91 T/I 124 rs1486530087 0.1578 None gnomAD-3.1.2 6.58E-06
16540 91 T/I 124 rs1486530087 0.1578 None gnomAD-4.0.0 2.57113E-06
16543 94 I/T 127 rs753250455 0.1547 None gnomAD-2.1.1 1.44E-05
16543 94 I/T 127 rs753250455 0.1547 None gnomAD-3.1.2 6.58E-06
16543 94 I/T 127 rs753250455 0.1547 None gnomAD-4.0.0 3.10441E-06
16543 94 I/V 127 rs756519277 0.1547 None gnomAD-2.1.1 4.06E-06
16543 94 I/V 127 rs756519277 0.1547 None gnomAD-4.0.0 1.3712E-06
16545 96 I/V 130 None 0.0557 None gnomAD-4.0.0 1.20038E-06
16547 98 D/E 132 rs767765903 0.5938 None gnomAD-2.1.1 4.08E-06
16547 98 D/E 132 rs767765903 0.5938 None gnomAD-4.0.0 1.60075E-06
16547 98 D/N 132 None 0.5938 None gnomAD-4.0.0 6.85931E-07
16547 98 D/Y 132 None 0.5938 None gnomAD-4.0.0 2.74373E-06