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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24908 1 V/A 1 rs1185511652 0.2976 None gnomAD-3.1.2 1.32E-05
24908 1 V/A 1 rs1185511652 0.2976 None gnomAD-4.0.0 3.84537E-06
24908 1 V/I 1 rs1463655441 0.2976 None gnomAD-3.1.2 6.58E-06
24908 1 V/I 1 rs1463655441 0.2976 None gnomAD-4.0.0 6.57609E-06
24909 2 P/H 2 None 0.1319 None gnomAD-4.0.0 1.59197E-06
24909 2 P/L 2 None 0.1319 None gnomAD-4.0.0 1.59197E-06
24910 3 G/A 3 None 0.2711 None gnomAD-4.0.0 1.20032E-06
24911 4 P/L 4 rs750688079 0.4519 None gnomAD-2.1.1 4.03E-06
24911 4 P/L 4 rs750688079 0.4519 None gnomAD-4.0.0 2.05305E-06
24911 4 P/S 4 None 0.4519 None gnomAD-4.0.0 1.59204E-06
24912 5 P/S 5 rs376072436 0.1187 None gnomAD-2.1.1 4.03E-06
24914 7 T/A 7 rs761941413 0.3677 None gnomAD-2.1.1 3.93E-05
24914 7 T/A 7 rs761941413 0.3677 None gnomAD-3.1.2 2.63E-05
24914 7 T/A 7 rs761941413 0.3677 None gnomAD-4.0.0 1.85971E-05
24914 7 T/I 7 rs777003046 0.3677 None gnomAD-2.1.1 1.79E-05
24914 7 T/I 7 rs777003046 0.3677 None gnomAD-3.1.2 6.58E-06
24914 7 T/I 7 rs777003046 0.3677 None gnomAD-4.0.0 1.30168E-05
24914 7 T/S 7 rs777003046 0.3677 None gnomAD-3.1.2 6.58E-06
24914 7 T/S 7 rs777003046 0.3677 None gnomAD-4.0.0 6.57722E-06
24916 9 V/I 11 rs764600357 0.4321 None gnomAD-2.1.1 4.03E-06
24916 9 V/I 11 rs764600357 0.4321 None gnomAD-4.0.0 1.20032E-06
24919 12 L/V 14 None 0.7055 None gnomAD-4.0.0 3.60099E-06
24920 13 S/C 15 None 0.3380 None gnomAD-4.0.0 3.60097E-06
24921 14 S/F 16 rs1373803284 0.1443 None gnomAD-2.1.1 4.03E-06
24921 14 S/F 16 rs1373803284 0.1443 None gnomAD-3.1.2 6.58E-06
24921 14 S/F 16 rs1373803284 0.1443 None gnomAD-4.0.0 2.56381E-06
24922 15 R/M 17 rs1002914471 0.5078 None gnomAD-3.1.2 6.58E-06
24922 15 R/M 17 rs1002914471 0.5078 None gnomAD-4.0.0 6.57886E-06
24922 15 R/S 17 rs372814940 0.5078 None gnomAD-2.1.1 2.82E-05
24922 15 R/S 17 rs372814940 0.5078 None gnomAD-3.1.2 1.32E-05
24922 15 R/S 17 rs372814940 0.5078 None gnomAD-4.0.0 3.71932E-05
24923 16 D/H 18 None 0.4184 None gnomAD-4.0.0 2.40064E-06
24923 16 D/N 18 None 0.4184 None gnomAD-4.0.0 1.20032E-06
24925 18 M/L 20 None 0.0738 None gnomAD-4.0.0 6.84349E-07
24925 18 M/T 20 None 0.0738 None gnomAD-4.0.0 3.42173E-06
24925 18 M/V 20 None 0.0738 None gnomAD-4.0.0 6.84349E-07
24927 20 V/L 22 rs1468819805 0.0879 None gnomAD-2.1.1 4.03E-06
24927 20 V/L 22 rs1468819805 0.0879 None gnomAD-4.0.0 6.84347E-07
24929 22 W/R 24 None 0.1104 None gnomAD-4.0.0 1.59199E-06
24931 24 E/D 26 rs1314632891 0.5823 None gnomAD-2.1.1 3.19E-05
24931 24 E/D 26 rs1314632891 0.5823 None gnomAD-3.1.2 1.32E-05
24931 24 E/D 26 rs1314632891 0.5823 None gnomAD-4.0.0 1.31532E-05
24931 24 E/K 26 rs369679134 0.5823 None gnomAD-2.1.1 1.07E-05
24931 24 E/K 26 rs369679134 0.5823 None gnomAD-3.1.2 1.97E-05
24931 24 E/K 26 rs369679134 0.5823 None gnomAD-4.0.0 1.36366E-05
24932 25 P/A 27 rs878982463 0.2049 None gnomAD-4.0.0 1.77929E-05
24932 25 P/S 27 rs878982463 0.2049 None gnomAD-4.0.0 6.84341E-07
24933 26 I/N 28 None 1.2716 None gnomAD-4.0.0 1.36866E-06
24933 26 I/T 28 rs769422476 1.2716 None gnomAD-2.1.1 1.21E-05
24933 26 I/T 28 rs769422476 1.2716 None gnomAD-4.0.0 2.73732E-06
24934 27 S/G 29 rs1231946544 0.4748 None gnomAD-4.0.0 2.05299E-06
24934 27 S/N 29 rs1450413002 0.4748 None gnomAD-3.1.2 6.58E-06
24934 27 S/N 29 rs1450413002 0.4748 None gnomAD-4.0.0 2.56329E-06
24934 27 S/R 29 rs1345094321 0.4748 None gnomAD-2.1.1 4.03E-06
24934 27 S/R 29 rs1345094321 0.4748 None gnomAD-4.0.0 1.5919E-06
24935 28 D/G 30 None 0.2773 None gnomAD-2.1.1 3.19E-05
24935 28 D/G 30 None 0.2773 None gnomAD-4.0.0 2.73731E-06
24935 28 D/N 30 None 0.2773 None gnomAD-4.0.0 1.20032E-06
24936 29 G/E 31 None 0.1817 None gnomAD-4.0.0 2.73732E-06
24936 29 G/R 31 None 0.1817 None gnomAD-4.0.0 1.59192E-06
24937 30 G/R 32 None 0.4358 None gnomAD-4.0.0 1.20033E-06
24938 31 S/R 33 rs747593205 0.2139 None gnomAD-2.1.1 1.07E-05
24938 31 S/R 33 rs747593205 0.2139 None gnomAD-3.1.2 1.97E-05
24938 31 S/R 33 rs747593205 0.2139 None gnomAD-4.0.0 9.91715E-06
24939 32 R/G 34 rs780582199 0.8167 None gnomAD-2.1.1 1.07E-05
24939 32 R/G 34 rs780582199 0.8167 None gnomAD-3.1.2 6.58E-06
24939 32 R/G 34 rs780582199 0.8167 None gnomAD-4.0.0 3.845E-06
24940 33 V/A 35 None 0.2526 None gnomAD-4.0.0 6.84322E-07
24940 33 V/D 35 rs754897261 0.2526 None gnomAD-2.1.1 2.82E-05
24940 33 V/D 35 rs754897261 0.2526 None gnomAD-4.0.0 1.09492E-05
24940 33 V/I 35 None 0.2526 None gnomAD-4.0.0 2.40065E-06
24941 34 I/T 36 rs1222996660 0.5098 None gnomAD-3.1.2 6.58E-06
24941 34 I/T 36 rs1222996660 0.5098 None gnomAD-4.0.0 4.95861E-06
24942 35 G/D 37 rs1393490525 0.1309 None gnomAD-2.1.1 8.06E-06
24942 35 G/D 37 rs1393490525 0.1309 None gnomAD-4.0.0 4.79022E-06
24942 35 G/S 37 rs746950810 0.1309 None gnomAD-2.1.1 4.03E-06
24942 35 G/S 37 rs746950810 0.1309 None gnomAD-4.0.0 1.59189E-06
24942 35 G/V 37 None 0.1309 None gnomAD-4.0.0 6.84317E-07
24943 36 Y/C 38 rs1708096253 0.1124 None gnomAD-3.1.2 6.58E-06
24943 36 Y/C 38 rs1708096253 0.1124 None gnomAD-4.0.0 2.56321E-06
24944 37 H/N 39 rs779868325 0.1627 None gnomAD-2.1.1 4.03E-06
24944 37 H/N 39 rs779868325 0.1627 None gnomAD-4.0.0 3.60101E-06
24944 37 H/R 39 rs1380943129 0.1627 None gnomAD-2.1.1 3.19E-05
24944 37 H/R 39 rs1380943129 0.1627 None gnomAD-3.1.2 6.58E-06
24944 37 H/R 39 rs1380943129 0.1627 None gnomAD-4.0.0 6.57696E-06
24945 38 L/V 40 None 0.0872 None gnomAD-4.0.0 2.40066E-06
24946 39 E/K 41 rs758242306 0.1553 None gnomAD-2.1.1 4.03E-06
24946 39 E/K 41 rs758242306 0.1553 None gnomAD-3.1.2 6.58E-06
24946 39 E/K 41 rs758242306 0.1553 None gnomAD-4.0.0 6.57817E-06
24947 40 R/C 42 rs744426 0.1680 None gnomAD-2.1.1 1.71489E-01
24947 40 R/C 42 rs744426 0.1680 None gnomAD-3.1.2 1.40561E-01
24947 40 R/C 42 rs744426 0.1680 None 1000 genomes 2.08067E-01
24947 40 R/C 42 rs744426 0.1680 None gnomAD-4.0.0 1.52119E-01
24947 40 R/H 42 rs765512476 0.1680 None gnomAD-2.1.1 3.93E-05
24947 40 R/H 42 rs765512476 0.1680 None gnomAD-3.1.2 1.97E-05
24947 40 R/H 42 rs765512476 0.1680 None gnomAD-4.0.0 7.43763E-06
24947 40 R/S 42 None 0.1680 None gnomAD-4.0.0 6.84331E-07
24948 41 K/T 43 rs1263875134 0.0560 None gnomAD-3.1.2 6.58E-06
24948 41 K/T 43 rs1263875134 0.0560 None gnomAD-4.0.0 2.56321E-06
24949 42 E/G 44 rs1179463518 0.4090 None gnomAD-2.1.1 4.03E-06
24949 42 E/G 44 rs1179463518 0.4090 None gnomAD-4.0.0 1.59182E-06
24949 42 E/Q 44 rs753903335 0.4090 None gnomAD-2.1.1 4.03E-06
24949 42 E/Q 44 rs753903335 0.4090 None gnomAD-3.1.2 6.58E-06
24949 42 E/Q 44 rs753903335 0.4090 None gnomAD-4.0.0 6.57903E-06
24951 44 N/S 54 None 0.9076 None gnomAD-4.0.0 3.60097E-06
24953 46 I/N 63 rs370142941 0.9675 None gnomAD-4.0.0 1.36862E-06
24953 46 I/T 63 rs370142941 0.9675 None gnomAD-2.1.1 4.03E-06
24953 46 I/V 63 rs1420626943 0.9675 None gnomAD-2.1.1 4.03E-06
24953 46 I/V 63 rs1420626943 0.9675 None gnomAD-4.0.0 1.5918E-06
24954 47 L/F 64 rs202191466 0.6326 None gnomAD-2.1.1 1.12726E-04
24954 47 L/F 64 rs202191466 0.6326 None gnomAD-3.1.2 6.58E-06
24954 47 L/F 64 rs202191466 0.6326 None gnomAD-4.0.0 2.47937E-05
24954 47 L/P 64 None 0.6326 None gnomAD-4.0.0 1.20032E-06
24955 48 W/L 65 None 0.1720 None gnomAD-4.0.0 1.20032E-06
24955 48 W/R 65 rs1484464559 0.1720 None gnomAD-2.1.1 4.03E-06
24955 48 W/R 65 rs1484464559 0.1720 None gnomAD-4.0.0 1.59184E-06
24956 49 V/I 66 rs375784858 0.3987 None gnomAD-2.1.1 4.03E-06
24956 49 V/I 66 rs375784858 0.3987 None gnomAD-4.0.0 1.20032E-06
24957 50 K/R 67 rs760043791 0.2964 None gnomAD-2.1.1 4.03E-06
24957 50 K/R 67 rs760043791 0.2964 None gnomAD-3.1.2 6.58E-06
24957 50 K/R 67 rs760043791 0.2964 None gnomAD-4.0.0 3.84465E-06
24957 50 K/T 67 rs760043791 0.2964 None gnomAD-3.1.2 6.58E-06
24957 50 K/T 67 rs760043791 0.2964 None gnomAD-4.0.0 6.57523E-06
24958 51 L/S 68 None 0.2387 None gnomAD-4.0.0 1.59182E-06
24961 54 T/I 72 None 0.7177 None gnomAD-4.0.0 1.20032E-06
24962 55 P/S 75 None 0.3353 None gnomAD-4.0.0 1.59183E-06
24963 56 I/V 77 rs769512290 0.0900 None gnomAD-2.1.1 1.61E-05
24963 56 I/V 77 rs769512290 0.0900 None gnomAD-4.0.0 7.95912E-06
24964 57 P/L 83 rs72646899 0.6920 None gnomAD-2.1.1 3.18071E-04
24964 57 P/L 83 rs72646899 0.6920 None gnomAD-3.1.2 8.81254E-04
24964 57 P/L 83 rs72646899 0.6920 None 1000 genomes 1.19808E-03
24964 57 P/L 83 rs72646899 0.6920 None gnomAD-4.0.0 1.80976E-04
24965 58 Q/H 88 rs201512527 0.6468 None gnomAD-2.1.1 9.93489E-04
24965 58 Q/H 88 rs201512527 0.6468 None gnomAD-3.1.2 8.15285E-04
24965 58 Q/H 88 rs201512527 0.6468 None 1000 genomes 3.99361E-04
24965 58 Q/H 88 rs201512527 0.6468 None gnomAD-4.0.0 9.06086E-04
24965 58 Q/R 88 None 0.6468 None gnomAD-4.0.0 1.20032E-06
24966 59 T/N 89 None 0.2422 None gnomAD-4.0.0 1.20032E-06
24967 60 K/T 90 None 0.4598 None gnomAD-4.0.0 1.59177E-06
24969 62 K/N 92 rs1708070929 0.4409 None gnomAD-4.0.0 3.18353E-06
24970 63 T/I 93 rs779917922 0.1315 None gnomAD-2.1.1 4.02E-06
24971 64 T/I 94 None 0.5730 None gnomAD-4.0.0 2.0529E-06
24972 65 G/S 96 None 0.4096 None gnomAD-4.0.0 1.20032E-06
24974 67 E/A 98 rs933954403 0.7192 None gnomAD-4.0.0 3.18354E-06
24974 67 E/K 98 rs372061666 0.7192 None gnomAD-2.1.1 4.03E-06
24974 67 E/K 98 rs372061666 0.7192 None gnomAD-3.1.2 6.57E-06
24974 67 E/K 98 rs372061666 0.7192 None gnomAD-4.0.0 2.56302E-06
24975 68 E/G 99 rs548753396 0.5836 None gnomAD-3.1.2 6.58E-06
24975 68 E/G 99 rs548753396 0.5836 None 1000 genomes 1.99681E-04
24975 68 E/G 99 rs548753396 0.5836 None gnomAD-4.0.0 6.57065E-06
24976 69 G/D 100 rs1708064976 0.2557 None gnomAD-3.1.2 6.57E-06
24976 69 G/D 100 rs1708064976 0.2557 None gnomAD-4.0.0 6.57479E-06
24976 69 G/S 100 rs1419152054 0.2557 None gnomAD-2.1.1 4.03E-06
24976 69 G/S 100 rs1419152054 0.2557 None gnomAD-4.0.0 3.18364E-06
24977 70 V/A 102 rs1156726146 0.2133 None gnomAD-2.1.1 4.03E-06
24977 70 V/A 102 rs1156726146 0.2133 None gnomAD-4.0.0 2.05294E-06
24978 71 E/Q 103 rs1708062798 0.2987 None gnomAD-4.0.0 1.59182E-06
24979 72 Y/H 104 rs1364199300 0.0890 None gnomAD-2.1.1 8.05E-06
24979 72 Y/H 104 rs1364199300 0.0890 None gnomAD-4.0.0 2.05292E-06
24979 72 Y/N 104 rs1364199300 0.0890 None gnomAD-2.1.1 4.03E-06
24979 72 Y/N 104 rs1364199300 0.0890 None gnomAD-4.0.0 6.84308E-07
24981 74 F/L 106 None 0.1138 None gnomAD-4.0.0 6.84321E-07
24981 74 F/V 106 rs1559399002 0.1138 None gnomAD-4.0.0 6.84321E-07
24983 76 V/A 108 rs530334283 0.0665 None gnomAD-2.1.1 2.42E-05
24983 76 V/A 108 rs530334283 0.0665 None gnomAD-3.1.2 1.98E-05
24983 76 V/A 108 rs530334283 0.0665 None 1000 genomes 1.99681E-04
24983 76 V/A 108 rs530334283 0.0665 None gnomAD-4.0.0 4.95895E-06
24985 78 A/S 110 rs878874875 0.1100 None gnomAD-4.0.0 7.52768E-06
24985 78 A/T 110 rs878874875 0.1100 None gnomAD-2.1.1 4.03E-06
24985 78 A/T 110 rs878874875 0.1100 None gnomAD-4.0.0 6.84334E-07
24986 79 E/D 111 None 0.2565 None gnomAD-4.0.0 1.20032E-06
24988 81 I/M 113 rs777883873 0.5382 None gnomAD-4.0.0 2.73742E-06
24988 81 I/T 113 None 0.5382 None gnomAD-4.0.0 1.59189E-06
24989 82 V/M 114 rs567800207 0.3024 None gnomAD-2.1.1 5.72221E-04
24989 82 V/M 114 rs567800207 0.3024 None gnomAD-3.1.2 1.57787E-04
24989 82 V/M 114 rs567800207 0.3024 None 1000 genomes 1.39776E-03
24989 82 V/M 114 rs567800207 0.3024 None gnomAD-4.0.0 2.53491E-04
24990 83 G/R 115 None 0.1819 None gnomAD-4.0.0 6.84333E-07
24990 83 G/S 115 rs727503561 0.1819 None gnomAD-3.1.2 6.58E-06
24990 83 G/S 115 rs727503561 0.1819 None gnomAD-4.0.0 6.19823E-06
24990 83 G/V 115 rs794729247 0.1819 None gnomAD-4.0.0 1.36868E-06
24991 84 I/L 117 None 0.4298 None gnomAD-4.0.0 1.20032E-06
24991 84 I/T 117 rs744427 0.4298 None gnomAD-2.1.1 4.79717E-03
24991 84 I/T 117 rs744427 0.4298 None gnomAD-3.1.2 1.42177E-02
24991 84 I/T 117 rs744427 0.4298 None 1000 genomes 1.63738E-02
24991 84 I/T 117 rs744427 0.4298 None gnomAD-4.0.0 2.78409E-03
24994 87 P/L 120 rs531281558 0.3188 None gnomAD-2.1.1 2.42E-05
24994 87 P/L 120 rs531281558 0.3188 None gnomAD-3.1.2 1.97E-05
24994 87 P/L 120 rs531281558 0.3188 None 1000 genomes 1.99681E-04
24994 87 P/L 120 rs531281558 0.3188 None gnomAD-4.0.0 1.4876E-05
24994 87 P/T 120 rs1416288780 0.3188 None gnomAD-2.1.1 3.19E-05
24994 87 P/T 120 rs1416288780 0.3188 None gnomAD-3.1.2 6.58E-06
24994 87 P/T 120 rs1416288780 0.3188 None gnomAD-4.0.0 6.57851E-06
24996 89 K/R 122 rs1206752183 0.8422 None gnomAD-4.0.0 3.60097E-06
25000 93 C/Y 126 rs1399533944 0.2762 None gnomAD-2.1.1 4.03E-06
25000 93 C/Y 126 rs1399533944 0.2762 None gnomAD-4.0.0 1.59201E-06
25004 97 R/C 131 rs1320326326 0.3842 None gnomAD-2.1.1 4.03E-06
25004 97 R/C 131 rs1320326326 0.3842 None gnomAD-3.1.2 3.29E-05
25004 97 R/C 131 rs1320326326 0.3842 None gnomAD-4.0.0 6.19869E-06
25004 97 R/G 131 rs1320326326 0.3842 None gnomAD-2.1.1 3.19E-05
25004 97 R/G 131 rs1320326326 0.3842 None gnomAD-3.1.2 6.58E-06
25004 97 R/G 131 rs1320326326 0.3842 None gnomAD-4.0.0 1.85961E-06
25004 97 R/H 131 rs909041164 0.3842 None gnomAD-2.1.1 4.03E-06
25004 97 R/H 131 rs909041164 0.3842 None gnomAD-3.1.2 1.97E-05
25004 97 R/H 131 rs909041164 0.3842 None gnomAD-4.0.0 1.85961E-05
25005 98 D/A 132 rs761496228 0.4945 None gnomAD-2.1.1 4.03E-06
25005 98 D/A 132 rs761496228 0.4945 None gnomAD-4.0.0 1.59194E-06
25005 98 D/E 132 rs2154169091 0.4945 None gnomAD-4.0.0 1.59203E-06
25005 98 D/N 132 rs766883705 0.4945 None gnomAD-2.1.1 4.03E-06
25005 98 D/N 132 rs766883705 0.4945 None gnomAD-4.0.0 1.59203E-06