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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22055 1 P/L 1 None 0.3737 None gnomAD-4.0.0 6.9344E-07
22055 1 P/Q 1 rs1286811365 0.3737 None gnomAD-2.1.1 4.36E-06
22055 1 P/Q 1 rs1286811365 0.3737 None gnomAD-4.0.0 8.32128E-06
22056 2 P/S 2 rs2047924833 0.8243 None gnomAD-4.0.0 3.23363E-06
22057 3 G/R 3 None 0.1871 None gnomAD-4.0.0 1.61757E-06
22058 4 R/C 4 rs199643269 0.5666 None gnomAD-2.1.1 1.113E-04
22058 4 R/C 4 rs199643269 0.5666 None gnomAD-3.1.2 3.88224E-04
22058 4 R/C 4 rs199643269 0.5666 None 1000 genomes 1.99681E-04
22058 4 R/C 4 rs199643269 0.5666 None gnomAD-4.0.0 8.41867E-05
22058 4 R/H 4 rs753077711 0.5666 None gnomAD-2.1.1 3.19E-05
22058 4 R/H 4 rs753077711 0.5666 None gnomAD-3.1.2 6.58E-06
22058 4 R/H 4 rs753077711 0.5666 None gnomAD-4.0.0 3.73232E-06
22058 4 R/L 4 rs753077711 0.5666 None gnomAD-2.1.1 4.13E-06
22058 4 R/L 4 rs753077711 0.5666 None gnomAD-4.0.0 2.06103E-06
22058 4 R/S 4 None 0.5666 None gnomAD-4.0.0 1.3779E-06
22059 5 C/S 5 None 0.1080 None gnomAD-4.0.0 1.20032E-06
22060 6 D/G 6 rs777203619 0.2692 None gnomAD-3.1.2 1.32E-05
22060 6 D/G 6 rs777203619 0.2692 None gnomAD-4.0.0 1.7985E-05
22060 6 D/Y 6 rs1201131904 0.2692 None gnomAD-3.1.2 6.58E-06
22060 6 D/Y 6 rs1201131904 0.2692 None gnomAD-4.0.0 6.57877E-06
22062 8 P/S 9 None 0.1509 None gnomAD-4.0.0 2.7387E-06
22063 9 V/L 11 rs768057735 0.4675 None gnomAD-2.1.1 6.49E-05
22063 9 V/L 11 rs768057735 0.4675 None gnomAD-3.1.2 3.95E-05
22063 9 V/L 11 rs768057735 0.4675 None gnomAD-4.0.0 5.51877E-05
22066 12 N/D 14 rs1394300458 0.4875 None gnomAD-2.1.1 4.05E-06
22066 12 N/D 14 rs1394300458 0.4875 None gnomAD-4.0.0 8.21548E-06
22066 12 N/S 14 rs1400000859 0.4875 None gnomAD-2.1.1 7.19E-06
22066 12 N/S 14 rs1400000859 0.4875 None gnomAD-3.1.2 1.97E-05
22066 12 N/S 14 rs1400000859 0.4875 None gnomAD-4.0.0 1.97291E-05
22067 13 I/T 15 rs368042545 0.2992 None gnomAD-2.1.1 8.11E-06
22067 13 I/T 15 rs368042545 0.2992 None gnomAD-3.1.2 1.32E-05
22067 13 I/T 15 rs368042545 0.2992 None gnomAD-4.0.0 1.55024E-05
22067 13 I/V 15 rs2154177929 0.2992 None gnomAD-4.0.0 1.59345E-06
22068 14 T/I 16 None 0.1991 None gnomAD-4.0.0 1.59372E-06
22070 16 D/H 18 rs750035436 0.5847 None gnomAD-2.1.1 4.05E-06
22070 16 D/H 18 rs750035436 0.5847 None gnomAD-4.0.0 6.84644E-07
22070 16 D/N 18 rs750035436 0.5847 None gnomAD-2.1.1 4.05E-06
22070 16 D/N 18 rs750035436 0.5847 None gnomAD-4.0.0 2.05393E-06
22071 17 H/P 19 rs968902463 0.3554 None gnomAD-4.0.0 6.84663E-07
22071 17 H/R 19 rs968902463 0.3554 None gnomAD-3.1.2 6.57E-06
22071 17 H/R 19 rs968902463 0.3554 None gnomAD-4.0.0 1.86024E-06
22072 18 M/L 20 None 0.1256 None gnomAD-4.0.0 1.59359E-06
22072 18 M/R 20 rs201420486 0.1256 None gnomAD-2.1.1 4.05E-06
22072 18 M/R 20 rs201420486 0.1256 None gnomAD-4.0.0 7.53107E-06
22074 20 V/I 22 rs1156659564 0.0771 None gnomAD-2.1.1 8.1E-06
22074 20 V/I 22 rs1156659564 0.0771 None gnomAD-3.1.2 1.32E-05
22074 20 V/I 22 rs1156659564 0.0771 None gnomAD-4.0.0 3.72065E-06
22075 21 S/G 23 None 0.2312 None gnomAD-4.0.0 1.36935E-06
22077 23 K/N 25 None 0.5432 None gnomAD-4.0.0 6.84686E-07
22079 25 P/L 27 rs1379026615 0.1167 None gnomAD-3.1.2 6.58E-06
22079 25 P/L 27 rs1379026615 0.1167 None gnomAD-4.0.0 6.41453E-06
22079 25 P/S 27 None 0.1167 None gnomAD-4.0.0 6.84686E-07
22080 26 A/T 28 None 0.6310 None gnomAD-4.0.0 2.40064E-06
22081 27 D/H 29 None 0.6124 None gnomAD-4.0.0 1.36929E-06
22081 27 D/N 29 None 0.6124 None gnomAD-4.0.0 6.84646E-07
22082 28 D/G 30 None 0.2406 None gnomAD-4.0.0 1.20032E-06
22083 29 G/A 31 rs1186241496 0.1897 None gnomAD-3.1.2 6.58E-06
22083 29 G/A 31 rs1186241496 0.1897 None gnomAD-4.0.0 6.57722E-06
22083 29 G/V 31 rs1186241496 0.1897 None gnomAD-2.1.1 4.04E-06
22084 30 G/S 32 rs776226354 0.4169 None gnomAD-2.1.1 4.04E-06
22084 30 G/S 32 rs776226354 0.4169 None gnomAD-4.0.0 1.36928E-06
22084 30 G/V 32 None 0.4169 None gnomAD-4.0.0 1.59379E-06
22085 31 S/L 33 rs2047911570 0.1545 None gnomAD-3.1.2 6.58E-06
22085 31 S/L 33 rs2047911570 0.1545 None gnomAD-4.0.0 2.03012E-06
22086 32 P/A 34 None 0.6418 None gnomAD-4.0.0 6.84592E-07
22087 33 I/V 35 None 0.2037 None gnomAD-4.0.0 1.59318E-06
22088 34 T/A 36 rs1559509011 0.4086 None gnomAD-2.1.1 4.04E-06
22088 34 T/A 36 rs1559509011 0.4086 None gnomAD-4.0.0 1.59308E-06
22088 34 T/N 36 rs886044538 0.4086 None gnomAD-3.1.2 1.97E-05
22088 34 T/N 36 rs886044538 0.4086 None gnomAD-4.0.0 1.97314E-05
22088 34 T/P 36 rs1559509011 0.4086 None gnomAD-3.1.2 1.32E-05
22088 34 T/P 36 rs1559509011 0.4086 None gnomAD-4.0.0 1.31427E-05
22089 35 G/S 37 rs2047909091 0.0768 None gnomAD-4.0.0 4.77893E-06
22089 35 G/V 37 None 0.0768 None gnomAD-4.0.0 1.59306E-06
22090 36 Y/C 38 rs760647730 0.0998 None gnomAD-3.1.2 6.58E-06
22090 36 Y/C 38 rs760647730 0.0998 None gnomAD-4.0.0 3.84702E-06
22090 36 Y/H 38 rs2047908666 0.0998 None gnomAD-4.0.0 1.59283E-06
22090 36 Y/S 38 rs760647730 0.0998 None gnomAD-3.1.2 6.58E-06
22090 36 Y/S 38 rs760647730 0.0998 None gnomAD-4.0.0 5.12936E-06
22091 37 L/S 39 None 0.3490 None gnomAD-4.0.0 1.20032E-06
22092 38 L/F 40 rs192182734 0.1028 None gnomAD-2.1.1 2.86E-05
22092 38 L/F 40 rs192182734 0.1028 None gnomAD-3.1.2 1.32E-05
22092 38 L/F 40 rs192182734 0.1028 None 1000 genomes 1.99681E-04
22092 38 L/F 40 rs192182734 0.1028 None gnomAD-4.0.0 6.81962E-06
22092 38 L/R 40 rs1553627146 0.1028 None gnomAD-4.0.0 1.20032E-06
22093 39 E/D 41 None 0.1809 None gnomAD-4.0.0 1.20032E-06
22093 39 E/V 41 None 0.1809 None gnomAD-4.0.0 2.40064E-06
22095 41 R/Q 43 rs745677076 0.1423 None gnomAD-2.1.1 2.82E-05
22095 41 R/Q 43 rs745677076 0.1423 None gnomAD-4.0.0 6.16E-06
22095 41 R/W 43 rs571093313 0.1423 None gnomAD-2.1.1 6.86E-05
22095 41 R/W 43 rs571093313 0.1423 None gnomAD-3.1.2 2.63E-05
22095 41 R/W 43 rs571093313 0.1423 None 1000 genomes 1.99681E-04
22095 41 R/W 43 rs571093313 0.1423 None gnomAD-4.0.0 2.54191E-05
22096 42 E/K 44 None 0.5018 None gnomAD-4.0.0 1.5925E-06
22098 44 Q/H 54 None 0.7182 None gnomAD-4.0.0 1.59231E-06
22099 45 A/S 60 rs1575927891 0.2356 None gnomAD-4.0.0 1.59232E-06
22099 45 A/V 60 rs2047904068 0.2356 None gnomAD-3.1.2 6.58E-06
22099 45 A/V 60 rs2047904068 0.2356 None gnomAD-4.0.0 7.69221E-06
22100 46 V/L 63 None 0.7002 None gnomAD-4.0.0 1.20032E-06
22101 47 N/Y 64 None 0.6995 None gnomAD-4.0.0 2.05314E-06
22102 48 W/C 65 None 0.2569 None gnomAD-4.0.0 1.59217E-06
22103 49 T/A 66 rs1351683543 0.4495 None gnomAD-2.1.1 4.03E-06
22103 49 T/A 66 rs1351683543 0.4495 None gnomAD-4.0.0 1.36876E-06
22103 49 T/I 66 rs1283761812 0.4495 None gnomAD-2.1.1 4.02E-06
22103 49 T/I 66 rs1283761812 0.4495 None gnomAD-4.0.0 6.36896E-06
22103 49 T/N 66 None 0.4495 None gnomAD-4.0.0 1.59224E-06
22106 52 N/H 69 rs1305235152 0.1523 None gnomAD-2.1.1 3.19E-05
22106 52 N/H 69 rs1305235152 0.1523 None gnomAD-3.1.2 6.58E-06
22106 52 N/H 69 rs1305235152 0.1523 None gnomAD-4.0.0 1.23972E-06
22106 52 N/K 69 rs771219209 0.1523 None gnomAD-2.1.1 4.02E-06
22106 52 N/K 69 rs771219209 0.1523 None gnomAD-4.0.0 3.42187E-06
22107 53 R/K 70 rs548035555 0.8775 None gnomAD-2.1.1 7.15E-06
22107 53 R/K 70 rs548035555 0.8775 None gnomAD-3.1.2 1.97E-05
22107 53 R/K 70 rs548035555 0.8775 None 1000 genomes 1.99681E-04
22107 53 R/K 70 rs548035555 0.8775 None gnomAD-4.0.0 5.12673E-06
22109 55 P/L 75 rs777960621 0.3695 None gnomAD-2.1.1 4.02E-06
22109 55 P/L 75 rs777960621 0.3695 None gnomAD-4.0.0 6.15947E-06
22110 56 I/T 77 None 0.0878 None gnomAD-4.0.0 1.59213E-06
22111 57 I/K 83 rs374614550 0.8708 None gnomAD-2.1.1 8.05E-06
22111 57 I/K 83 rs374614550 0.8708 None gnomAD-4.0.0 1.095E-05
22111 57 I/T 83 rs374614550 0.8708 None gnomAD-4.0.0 4.10624E-06
22111 57 I/V 83 rs1453348748 0.8708 None gnomAD-2.1.1 4.02E-06
22111 57 I/V 83 rs1453348748 0.8708 None gnomAD-4.0.0 1.59211E-06
22112 58 E/Q 88 None 0.5845 None gnomAD-4.0.0 1.59214E-06
22113 59 R/K 89 rs748719400 0.5960 None gnomAD-4.0.0 1.59217E-06
22114 60 T/I 90 rs1575927090 0.2713 None gnomAD-4.0.0 4.77649E-06
22115 61 L/F 91 rs371010572 0.1900 None gnomAD-2.1.1 3.19E-05
22115 61 L/F 91 rs371010572 0.1900 None gnomAD-3.1.2 1.32E-05
22115 61 L/F 91 rs371010572 0.1900 None gnomAD-4.0.0 3.84555E-06
22117 63 A/T 93 rs727505036 0.1424 None gnomAD-2.1.1 1.21494E-04
22117 63 A/T 93 rs727505036 0.1424 None gnomAD-3.1.2 1.97E-05
22117 63 A/T 93 rs727505036 0.1424 None gnomAD-4.0.0 2.54153E-05
22118 64 T/A 94 None 0.4612 None gnomAD-4.0.0 1.59217E-06
22118 64 T/I 94 rs751985481 0.4612 None gnomAD-2.1.1 1.21E-05
22119 65 G/S 96 rs901951990 0.5504 None gnomAD-2.1.1 4.02E-06
22120 66 L/R 97 None 0.1483 None gnomAD-4.0.0 1.59217E-06
22121 67 Q/P 98 rs1369743485 0.6079 None gnomAD-2.1.1 4.02E-06
22121 67 Q/R 98 rs1369743485 0.6079 None gnomAD-2.1.1 4.02E-06
22121 67 Q/R 98 rs1369743485 0.6079 None gnomAD-4.0.0 1.59219E-06
22122 68 E/K 99 rs764747244 0.5741 None gnomAD-2.1.1 8.05E-06
22122 68 E/K 99 rs764747244 0.5741 None gnomAD-3.1.2 6.58E-06
22122 68 E/K 99 rs764747244 0.5741 None gnomAD-4.0.0 1.0538E-05
22122 68 E/Q 99 rs764747244 0.5741 None gnomAD-4.0.0 6.84386E-07
22124 70 T/A 102 None 0.1638 None gnomAD-4.0.0 1.20032E-06
22124 70 T/I 102 rs1449457427 0.1638 None gnomAD-2.1.1 4.02E-06
22124 70 T/I 102 rs1449457427 0.1638 None gnomAD-4.0.0 2.73759E-06
22125 71 E/G 103 None 0.2914 None gnomAD-4.0.0 1.59223E-06
22125 71 E/K 103 rs752675920 0.2914 None gnomAD-2.1.1 2.82E-05
22125 71 E/K 103 rs752675920 0.2914 None gnomAD-3.1.2 6.58E-06
22125 71 E/K 103 rs752675920 0.2914 None gnomAD-4.0.0 8.05873E-06
22126 72 Y/H 104 rs1447894010 0.1184 None gnomAD-2.1.1 4.02E-06
22126 72 Y/H 104 rs1447894010 0.1184 None gnomAD-4.0.0 8.21273E-06
22127 73 E/A 105 rs1289473781 0.1904 None gnomAD-2.1.1 4.02E-06
22127 73 E/A 105 rs1289473781 0.1904 None gnomAD-4.0.0 3.18454E-06
22127 73 E/D 105 rs1208330464 0.1904 None gnomAD-2.1.1 4.02E-06
22127 73 E/D 105 rs1208330464 0.1904 None gnomAD-4.0.0 1.59227E-06
22128 74 F/S 106 rs2047881254 0.1744 None gnomAD-4.0.0 3.18462E-06
22129 75 R/C 107 rs763729258 0.1857 None gnomAD-2.1.1 1.12691E-04
22129 75 R/C 107 rs763729258 0.1857 None gnomAD-3.1.2 2.63E-05
22129 75 R/C 107 rs763729258 0.1857 None gnomAD-4.0.0 4.89732E-05
22129 75 R/H 107 rs187257105 0.1857 None gnomAD-2.1.1 1.57232E-04
22129 75 R/H 107 rs187257105 0.1857 None gnomAD-3.1.2 5.26E-05
22129 75 R/H 107 rs187257105 0.1857 None gnomAD-4.0.0 5.88866E-05
22130 76 V/I 108 rs1227757855 0.0775 None gnomAD-4.0.0 1.36881E-06
22130 76 V/L 108 rs1227757855 0.0775 None gnomAD-2.1.1 2.41E-05
22130 76 V/L 108 rs1227757855 0.0775 None gnomAD-3.1.2 1.32E-05
22130 76 V/L 108 rs1227757855 0.0775 None gnomAD-4.0.0 1.36375E-05
22131 77 T/A 109 rs140842479 0.1507 None gnomAD-2.1.1 1.5006E-04
22131 77 T/A 109 rs140842479 0.1507 None gnomAD-3.1.2 4.60199E-04
22131 77 T/A 109 rs140842479 0.1507 None 1000 genomes 1.59744E-03
22131 77 T/A 109 rs140842479 0.1507 None gnomAD-4.0.0 8.05776E-05
22131 77 T/I 109 rs1553626919 0.1507 None gnomAD-4.0.0 1.59236E-06
22132 78 A/P 110 rs2047876545 0.0843 None gnomAD-4.0.0 1.59237E-06
22134 80 N/K 112 None 0.1106 None gnomAD-4.0.0 1.20032E-06
22135 81 K/E 113 None 0.5304 None gnomAD-4.0.0 2.40065E-06
22136 82 A/D 114 rs767451470 0.3024 None gnomAD-2.1.1 2.01E-05
22136 82 A/D 114 rs767451470 0.3024 None gnomAD-3.1.2 6.58E-06
22136 82 A/D 114 rs767451470 0.3024 None gnomAD-4.0.0 7.43893E-06
22137 83 G/A 115 None 0.2094 None gnomAD-4.0.0 1.20032E-06
22137 83 G/E 115 None 0.2094 None gnomAD-4.0.0 4.80129E-06
22137 83 G/V 115 rs1405845871 0.2094 None gnomAD-4.0.0 1.20032E-06
22138 84 P/S 117 rs759290401 0.4908 None gnomAD-2.1.1 4.02E-06
22138 84 P/S 117 rs759290401 0.4908 None gnomAD-4.0.0 1.59249E-06
22139 85 G/D 118 rs1559507734 0.1542 None gnomAD-4.0.0 8.21329E-06
22139 85 G/R 118 rs774227311 0.1542 None gnomAD-2.1.1 4.02E-06
22139 85 G/R 118 rs774227311 0.1542 None gnomAD-4.0.0 2.05331E-06
22142 88 S/N 121 rs771038770 0.1768 None gnomAD-2.1.1 4.03E-06
22143 89 D/N 122 None 0.9297 None gnomAD-4.0.0 6.84453E-07
22144 90 A/T 123 rs183276016 0.2498 None gnomAD-2.1.1 2.71673E-04
22144 90 A/T 123 rs183276016 0.2498 None gnomAD-3.1.2 2.49878E-04
22144 90 A/T 123 rs183276016 0.2498 None gnomAD-4.0.0 4.64334E-04
22145 91 S/P 124 None 0.2721 None gnomAD-4.0.0 1.5926E-06
22145 91 S/Y 124 None 0.2721 None gnomAD-4.0.0 1.20032E-06
22146 92 K/E 125 rs2047865333 0.8886 None gnomAD-3.1.2 6.57E-06
22146 92 K/E 125 rs2047865333 0.8886 None gnomAD-4.0.0 6.57333E-06
22147 93 A/P 126 rs773148853 0.3357 None gnomAD-2.1.1 4.03E-06
22147 93 A/P 126 rs773148853 0.3357 None gnomAD-4.0.0 1.59268E-06
22148 94 A/T 127 rs794727433 0.2214 None gnomAD-2.1.1 2.01E-05
22148 94 A/T 127 rs794727433 0.2214 None gnomAD-3.1.2 6.57E-06
22148 94 A/T 127 rs794727433 0.2214 None gnomAD-4.0.0 9.91907E-06
22151 97 R/L 131 None 0.6690 None gnomAD-4.0.0 6.8453E-07
22151 97 R/P 131 rs781750042 0.6690 None gnomAD-2.1.1 4.03E-06
22151 97 R/P 131 rs781750042 0.6690 None gnomAD-4.0.0 2.05359E-06
22151 97 R/Q 131 rs781750042 0.6690 None gnomAD-2.1.1 4.03E-06
22151 97 R/Q 131 rs781750042 0.6690 None gnomAD-3.1.2 6.58E-06
22151 97 R/Q 131 rs781750042 0.6690 None gnomAD-4.0.0 4.3399E-06
22151 97 R/W 131 rs748238939 0.6690 None gnomAD-2.1.1 1.61E-05
22151 97 R/W 131 rs748238939 0.6690 None gnomAD-4.0.0 1.02678E-05
22152 98 D/E 132 None 1.0461 None gnomAD-4.0.0 1.59298E-06