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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
943 1 P/L 1 rs577379388 0.1731 None gnomAD-2.1.1 3.98E-06
943 1 P/L 1 rs577379388 0.1731 None gnomAD-3.1.2 6.59E-06
943 1 P/L 1 rs577379388 0.1731 None 1000 genomes 1.99681E-04
943 1 P/L 1 rs577379388 0.1731 None gnomAD-4.0.0 2.03049E-06
946 4 V/I 4 rs752246051 0.5827 None gnomAD-2.1.1 1.77E-05
946 4 V/I 4 rs752246051 0.5827 None gnomAD-3.1.2 6.59E-06
946 4 V/I 4 rs752246051 0.5827 None gnomAD-4.0.0 3.03764E-05
947 5 S/L 5 rs761200839 0.3859 None gnomAD-2.1.1 4.38E-05
947 5 S/L 5 rs761200839 0.3859 None gnomAD-3.1.2 3.29E-05
947 5 S/L 5 rs761200839 0.3859 None gnomAD-4.0.0 1.98408E-05
947 5 S/P 5 None 0.3859 None gnomAD-4.0.0 1.59137E-06
948 6 G/D 7 rs2092914305 0.2986 None gnomAD-4.0.0 2.05237E-06
948 6 G/S 7 rs1234047810 0.2986 None gnomAD-2.1.1 4E-06
948 6 G/S 7 rs1234047810 0.2986 None gnomAD-4.0.0 6.15715E-06
950 8 K/E 9 rs367559160 0.8261 None gnomAD-2.1.1 2.49E-05
950 8 K/E 9 rs367559160 0.8261 None gnomAD-3.1.2 1.97E-05
950 8 K/E 9 rs367559160 0.8261 None gnomAD-4.0.0 7.68285E-05
952 10 V/L 13 rs373848402 0.3457 None gnomAD-2.1.1 1.2E-05
952 10 V/L 13 rs373848402 0.3457 None gnomAD-3.1.2 3.94E-05
952 10 V/L 13 rs373848402 0.3457 None gnomAD-4.0.0 6.84097E-07
952 10 V/M 13 None 0.3457 None gnomAD-4.0.0 6.84097E-07
953 11 T/A 14 None 0.5353 None gnomAD-4.0.0 2.05228E-06
953 11 T/P 14 None 0.5353 None gnomAD-4.0.0 1.77864E-05
953 11 T/S 14 rs72647865 0.5353 None gnomAD-2.1.1 4E-06
953 11 T/S 14 rs72647865 0.5353 None gnomAD-4.0.0 6.84097E-06
954 12 V/G 16 None 0.1430 None gnomAD-4.0.0 1.5906E-06
955 13 I/L 18 rs762556628 0.5845 None gnomAD-2.1.1 4E-06
955 13 I/V 18 rs762556628 0.5845 None gnomAD-2.1.1 4E-06
955 13 I/V 18 rs762556628 0.5845 None gnomAD-4.0.0 4.80134E-06
956 14 E/V 23 rs1256742632 0.5302 None gnomAD-2.1.1 3.19E-05
956 14 E/V 23 rs1256742632 0.5302 None gnomAD-4.0.0 1.20033E-06
957 15 G/C 24 None 0.2933 None gnomAD-4.0.0 2.40067E-06
957 15 G/S 24 None 0.2933 None gnomAD-4.0.0 1.20033E-06
958 16 E/D 25 None 0.3730 None gnomAD-4.0.0 1.20037E-06
959 17 S/Y 26 None 0.5515 None gnomAD-4.0.0 1.59062E-06
960 18 V/I 28 None 0.2021 None gnomAD-4.0.0 1.36821E-06
960 18 V/L 28 None 0.2021 None gnomAD-4.0.0 6.84104E-07
962 20 L/W 30 None 0.1664 None gnomAD-4.0.0 1.20033E-06
963 21 E/D 31 rs1393032636 0.3109 None gnomAD-2.1.1 3.99E-06
963 21 E/D 31 rs1393032636 0.3109 None gnomAD-4.0.0 1.59056E-06
964 22 C/S 33 rs1195488045 0.0968 None gnomAD-2.1.1 3.99E-06
964 22 C/S 33 rs1195488045 0.0968 None gnomAD-4.0.0 1.59057E-06
965 23 H/P 34 None 0.3935 None gnomAD-4.0.0 1.59055E-06
965 23 H/Y 34 rs761450193 0.3935 None gnomAD-2.1.1 7.98E-06
965 23 H/Y 34 rs761450193 0.3935 None gnomAD-4.0.0 3.18112E-06
966 24 I/M 35 rs144408973 0.1602 None gnomAD-2.1.1 3.99E-06
966 24 I/N 35 None 0.1602 None gnomAD-4.0.0 2.40066E-06
966 24 I/V 35 rs2092911302 0.1602 None gnomAD-4.0.0 3.1811E-06
967 25 S/P 38 rs768416555 0.3825 None gnomAD-2.1.1 3.99E-06
967 25 S/P 38 rs768416555 0.3825 None gnomAD-4.0.0 1.59055E-06
968 26 G/E 40 None 0.3268 None gnomAD-4.0.0 6.84079E-07
968 26 G/V 40 None 0.3268 None gnomAD-4.0.0 6.84079E-07
969 27 Y/C 41 rs779994150 0.8970 None gnomAD-2.1.1 3.99E-06
969 27 Y/H 41 rs746986462 0.8970 None gnomAD-2.1.1 7.98E-06
969 27 Y/H 41 rs746986462 0.8970 None gnomAD-4.0.0 3.18112E-06
970 28 P/A 42 rs771852108 0.3383 None gnomAD-2.1.1 1.99E-05
970 28 P/A 42 rs771852108 0.3383 None gnomAD-4.0.0 1.27245E-05
970 28 P/L 42 rs745978235 0.3383 None gnomAD-2.1.1 3.99E-06
971 29 S/F 43 None 0.5537 None gnomAD-4.0.0 1.59055E-06
972 30 P/L 44 rs540920622 0.1414 None gnomAD-2.1.1 7.98E-06
972 30 P/L 44 rs540920622 0.1414 None gnomAD-3.1.2 6.57E-06
972 30 P/L 44 rs540920622 0.1414 None 1000 genomes 1.99681E-04
972 30 P/L 44 rs540920622 0.1414 None gnomAD-4.0.0 4.33687E-06
972 30 P/Q 44 rs540920622 0.1414 None gnomAD-3.1.2 6.57E-06
972 30 P/Q 44 rs540920622 0.1414 None gnomAD-4.0.0 6.57307E-06
974 32 V/L 46 rs749511236 0.2181 None gnomAD-4.0.0 1.36816E-06
974 32 V/M 46 rs749511236 0.2181 None gnomAD-2.1.1 7.97E-06
974 32 V/M 46 rs749511236 0.2181 None gnomAD-4.0.0 2.05224E-06
975 33 T/A 47 rs2092909709 0.3075 None gnomAD-3.1.2 1.31E-05
975 33 T/A 47 rs2092909709 0.3075 None gnomAD-4.0.0 3.84149E-06
976 34 W/R 48 rs267607155 0.1169 DCM
Literature None
977 35 Y/C 49 rs1305432524 0.2287 None gnomAD-2.1.1 7.97E-06
977 35 Y/C 49 rs1305432524 0.2287 None gnomAD-4.0.0 3.18107E-06
978 36 R/G 50 None 0.2609 None gnomAD-4.0.0 1.20034E-06
978 36 R/T 50 None 0.2609 None gnomAD-4.0.0 1.36815E-06
979 37 E/K 51 rs778333259 0.2721 None gnomAD-2.1.1 1.59E-05
979 37 E/K 51 rs778333259 0.2721 None gnomAD-4.0.0 2.0677E-05
981 39 Y/C 55 rs1312572604 0.7915 None gnomAD-2.1.1 3.99E-06
984 42 E/G 59 rs768091037 0.9347 None gnomAD-2.1.1 5.32E-05
984 42 E/G 59 rs768091037 0.9347 None gnomAD-3.1.2 3.94E-05
984 42 E/G 59 rs768091037 0.9347 None gnomAD-4.0.0 2.35434E-05
984 42 E/K 59 rs753071669 0.9347 None gnomAD-2.1.1 7.98E-06
984 42 E/K 59 rs753071669 0.9347 None gnomAD-4.0.0 4.77169E-06
985 43 S/R 70 None 0.4669 None gnomAD-4.0.0 1.59053E-06
986 44 S/F 73 rs755373497 0.2492 None gnomAD-2.1.1 3.99E-06
986 44 S/F 73 rs755373497 0.2492 None gnomAD-4.0.0 3.18109E-06
987 45 I/M 102 rs1447507348 0.8609 None gnomAD-3.1.2 1.31E-05
987 45 I/M 102 rs1447507348 0.8609 None gnomAD-4.0.0 1.31404E-05
987 45 I/T 102 None 0.8609 None gnomAD-4.0.0 1.20032E-06
987 45 I/V 102 rs1363179107 0.8609 None gnomAD-2.1.1 3.99E-06
987 45 I/V 102 rs1363179107 0.8609 None gnomAD-4.0.0 1.36815E-06
988 46 D/N 115 None 0.4480 None gnomAD-4.0.0 1.36815E-06
989 47 F/L 121 rs376548316 0.2783 None gnomAD-2.1.1 5.58E-05
989 47 F/L 121 rs376548316 0.2783 None gnomAD-3.1.2 6.57E-06
989 47 F/L 121 rs376548316 0.2783 None gnomAD-4.0.0 6.84075E-07
991 49 I/M 123 None 0.2521 None gnomAD-4.0.0 2.40064E-06
993 51 F/L 127 rs371838857 0.2831 None gnomAD-2.1.1 7.97E-06
993 51 F/L 127 rs371838857 0.2831 None gnomAD-4.0.0 2.05223E-06
994 52 Q/R 130 None 0.7662 None gnomAD-4.0.0 1.59054E-06
995 53 S/G 131 rs1369944497 0.8723 None gnomAD-2.1.1 3.19E-05
995 53 S/G 131 rs1369944497 0.8723 None gnomAD-3.1.2 2.63E-05
995 53 S/G 131 rs1369944497 0.8723 None gnomAD-4.0.0 2.62895E-05
995 53 S/N 131 None 0.8723 None gnomAD-4.0.0 2.40064E-06
996 54 G/E 134 None 0.2009 None gnomAD-4.0.0 6.36215E-06
996 54 G/R 134 None 0.2009 None gnomAD-4.0.0 1.20032E-06
997 55 I/V 135 rs761499989 0.2689 None gnomAD-2.1.1 1.2E-05
997 55 I/V 135 rs761499989 0.2689 None gnomAD-3.1.2 6.57E-06
997 55 I/V 135 rs761499989 0.2689 None gnomAD-4.0.0 6.403E-06
998 56 A/G 136 rs776232888 0.0896 None gnomAD-2.1.1 7.97E-06
998 56 A/G 136 rs776232888 0.0896 None gnomAD-3.1.2 3.94E-05
998 56 A/G 136 rs776232888 0.0896 None gnomAD-4.0.0 6.8149E-06
998 56 A/P 136 None 0.0896 None gnomAD-4.0.0 6.84076E-07
998 56 A/S 136 None 0.0896 None gnomAD-4.0.0 2.05223E-06
998 56 A/V 136 rs776232888 0.0896 None gnomAD-2.1.1 3.99E-06
998 56 A/V 136 rs776232888 0.0896 None gnomAD-4.0.0 1.36816E-06
999 57 R/C 137 rs142000511 0.4262 None gnomAD-2.1.1 1.2E-05
999 57 R/C 137 rs142000511 0.4262 None gnomAD-4.0.0 6.84079E-06
999 57 R/H 137 None 0.4262 None gnomAD-2.1.1 2.83E-05
999 57 R/H 137 None 0.4262 None gnomAD-3.1.2 3.29E-05
999 57 R/H 137 None 0.4262 None gnomAD-4.0.0 1.98256E-05
999 57 R/L 137 rs371757623 0.4262 None gnomAD-4.0.0 1.36816E-06
999 57 R/S 137 None 0.4262 None gnomAD-4.0.0 6.8408E-07
1000 58 L/F 138 rs140953779 0.0791 None gnomAD-2.1.1 3.54E-05
1000 58 L/F 138 rs140953779 0.0791 None gnomAD-3.1.2 3.29E-05
1000 58 L/F 138 rs140953779 0.0791 None 1000 genomes 1.99681E-04
1000 58 L/F 138 rs140953779 0.0791 None gnomAD-4.0.0 1.40848E-05
1001 59 M/I 139 rs794729522 0.4171 None gnomAD-4.0.0 6.36231E-06
1001 59 M/R 139 rs148269839 0.4171 None gnomAD-2.1.1 1.13354E-04
1001 59 M/R 139 rs148269839 0.4171 None gnomAD-3.1.2 1.18247E-04
1001 59 M/R 139 rs148269839 0.4171 None gnomAD-4.0.0 1.44358E-04
1001 59 M/T 139 rs148269839 0.4171 None gnomAD-2.1.1 8.86E-05
1001 59 M/T 139 rs148269839 0.4171 None gnomAD-3.1.2 5.91E-05
1001 59 M/T 139 rs148269839 0.4171 None gnomAD-4.0.0 3.71737E-05
1001 59 M/V 139 None 0.4171 None gnomAD-4.0.0 1.20032E-06
1002 60 I/L 140 rs879153744 0.1138 None gnomAD-2.1.1 1.59E-05
1002 60 I/L 140 rs879153744 0.1138 None gnomAD-3.1.2 3.94E-05
1002 60 I/L 140 rs879153744 0.1138 None gnomAD-4.0.0 8.05466E-06
1002 60 I/V 140 None 0.1138 None gnomAD-4.0.0 1.36816E-06
1003 61 R/C 141 rs774551765 0.4674 None gnomAD-2.1.1 1.2E-05
1003 61 R/C 141 rs774551765 0.4674 None gnomAD-3.1.2 1.31E-05
1003 61 R/C 141 rs774551765 0.4674 None gnomAD-4.0.0 2.72623E-05
1003 61 R/H 141 rs1330606775 0.4674 None gnomAD-2.1.1 3.19E-05
1003 61 R/H 141 rs1330606775 0.4674 None gnomAD-3.1.2 6.57E-06
1003 61 R/H 141 rs1330606775 0.4674 None gnomAD-4.0.0 4.9568E-06
1003 61 R/S 141 rs774551765 0.4674 None gnomAD-4.0.0 1.36817E-06
1004 62 E/A 143 rs1413214135 0.5807 None gnomAD-2.1.1 7.97E-06
1004 62 E/A 143 rs1413214135 0.5807 None gnomAD-4.0.0 7.52498E-06
1004 62 E/K 143 rs200902055 0.5807 None gnomAD-2.1.1 1.23987E-04
1004 62 E/K 143 rs200902055 0.5807 None gnomAD-3.1.2 1.3804E-04
1004 62 E/K 143 rs200902055 0.5807 None gnomAD-4.0.0 6.07216E-05
1005 63 A/G 144 None 0.0960 None gnomAD-4.0.0 6.84088E-07
1005 63 A/T 144 None 0.0960 None gnomAD-4.0.0 3.18122E-06
1005 63 A/V 144 rs1357635150 0.0960 None gnomAD-2.1.1 3.99E-06
1005 63 A/V 144 rs1357635150 0.0960 None gnomAD-4.0.0 1.36818E-06
1006 64 F/L 145 None 0.4508 None gnomAD-4.0.0 3.60097E-06
1006 64 F/S 145 None 0.4508 None gnomAD-4.0.0 1.59061E-06
1007 65 A/T 146 None 0.4144 None gnomAD-4.0.0 1.36819E-06
1007 65 A/V 146 rs749564348 0.4144 None gnomAD-2.1.1 1.2E-05
1008 66 E/D 148 None 0.8792 None gnomAD-4.0.0 1.36821E-06
1008 66 E/K 148 rs756356686 0.8792 None gnomAD-2.1.1 3.99E-06
1008 66 E/K 148 rs756356686 0.8792 None gnomAD-3.1.2 6.57E-06
1008 66 E/K 148 rs756356686 0.8792 None gnomAD-4.0.0 2.56143E-06
1009 67 D/E 149 rs794729523 0.1942 None gnomAD-3.1.2 1.31E-05
1009 67 D/E 149 rs794729523 0.1942 None gnomAD-4.0.0 7.43529E-06
1011 69 G/R 152 rs397517546 0.1258 None gnomAD-2.1.1 1.99E-05
1011 69 G/R 152 rs397517546 0.1258 None gnomAD-3.1.2 1.31E-05
1011 69 G/R 152 rs397517546 0.1258 None gnomAD-4.0.0 9.29422E-06
1012 70 R/Q 153 rs368885310 0.2881 None gnomAD-2.1.1 3.9E-05
1012 70 R/Q 153 rs368885310 0.2881 None gnomAD-3.1.2 5.26E-05
1012 70 R/Q 153 rs368885310 0.2881 None gnomAD-4.0.0 2.04468E-05
1016 74 S/G 157 rs756789081 0.2153 None gnomAD-2.1.1 3.99E-06
1016 74 S/G 157 rs756789081 0.2153 None gnomAD-3.1.2 6.57E-06
1016 74 S/G 157 rs756789081 0.2153 None gnomAD-4.0.0 2.5616E-06
1016 74 S/R 157 None 0.2153 None gnomAD-4.0.0 1.59105E-06
1018 76 V/A 159 rs878967057 0.3778 None gnomAD-3.1.2 6.57E-06
1018 76 V/A 159 rs878967057 0.3778 None gnomAD-4.0.0 6.56927E-06
1020 78 E/A 162 None 0.9052 None gnomAD-4.0.0 1.20032E-06
1021 79 A/D 163 None 0.7110 None gnomAD-4.0.0 1.59161E-06
1021 79 A/S 163 rs763746036 0.7110 None gnomAD-3.1.2 6.57E-06
1021 79 A/T 163 rs763746036 0.7110 None gnomAD-2.1.1 3.99E-06
1021 79 A/T 163 rs763746036 0.7110 None gnomAD-4.0.0 1.59161E-06
1023 81 T/I 165 None 0.4466 None gnomAD-4.0.0 1.36872E-06
1024 82 V/F 166 None 0.2396 None gnomAD-4.0.0 6.84403E-07
1024 82 V/G 166 rs879097187 0.2396 None gnomAD-2.1.1 3.18E-05
1024 82 V/G 166 rs879097187 0.2396 None gnomAD-4.0.0 1.3688E-06
1024 82 V/I 166 rs368770038 0.2396 None gnomAD-2.1.1 3.99E-05
1024 82 V/I 166 rs368770038 0.2396 None gnomAD-3.1.2 6.57E-06
1024 82 V/I 166 rs368770038 0.2396 None gnomAD-4.0.0 2.54131E-05
1026 84 T/A 169 rs2092899291 0.1720 None gnomAD-3.1.2 6.57E-06
1026 84 T/A 169 rs2092899291 0.1720 None gnomAD-4.0.0 6.56953E-06
1026 84 T/I 169 rs1231552005 0.1720 None gnomAD-2.1.1 3.99E-06
1026 84 T/I 169 rs1231552005 0.1720 None gnomAD-4.0.0 2.60101E-05
1027 85 S/P 171 None 0.3917 None gnomAD-4.0.0 3.18567E-06
1028 86 C/F 172 rs767205822 0.1072 None gnomAD-3.1.2 6.57E-06
1028 86 C/F 172 rs767205822 0.1072 None gnomAD-4.0.0 6.57108E-06
1028 86 C/G 172 None 0.1072 None gnomAD-4.0.0 2.05357E-06
1028 86 C/Y 172 rs767205822 0.1072 None gnomAD-2.1.1 3.99E-06
1028 86 C/Y 172 rs767205822 0.1072 None gnomAD-4.0.0 1.3691E-06
1029 87 Y/C 173 rs774126306 0.4305 None gnomAD-2.1.1 1.42E-05
1029 87 Y/C 173 rs774126306 0.4305 None gnomAD-3.1.2 2.63E-05
1029 87 Y/C 173 rs774126306 0.4305 None gnomAD-4.0.0 6.81985E-06
1029 87 Y/S 173 rs774126306 0.4305 None gnomAD-2.1.1 3.99E-06
1029 87 Y/S 173 rs774126306 0.4305 None gnomAD-4.0.0 6.84583E-07
1030 88 L/V 174 rs773367580 0.1093 None gnomAD-2.1.1 7.98E-06
1030 88 L/V 174 rs773367580 0.1093 None gnomAD-3.1.2 6.57E-06
1030 88 L/V 174 rs773367580 0.1093 None gnomAD-4.0.0 3.84703E-06
1031 89 A/S 175 rs748303934 0.2154 None gnomAD-4.0.0 1.59367E-06
1031 89 A/T 175 rs748303934 0.2154 None gnomAD-2.1.1 7.1E-06
1031 89 A/T 175 rs748303934 0.2154 None gnomAD-3.1.2 1.97E-05
1031 89 A/T 175 rs748303934 0.2154 None gnomAD-4.0.0 6.41279E-06
1031 89 A/V 175 None 0.2154 None gnomAD-4.0.0 1.59369E-06
1032 90 V/L 177 None 0.1718 None gnomAD-4.0.0 1.59383E-06
1032 90 V/M 177 rs768869901 0.1718 None gnomAD-2.1.1 7.98E-06
1032 90 V/M 177 rs768869901 0.1718 None gnomAD-3.1.2 1.31E-05
1032 90 V/M 177 rs768869901 0.1718 None gnomAD-4.0.0 6.4133E-06