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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30927 1 I/K 1 rs531432790 0.3805 None gnomAD-2.1.1 6.31765E-04
30927 1 I/K 1 rs531432790 0.3805 None gnomAD-3.1.2 1.97166E-04
30927 1 I/K 1 rs531432790 0.3805 None 1000 genomes 7.98722E-04
30927 1 I/K 1 rs531432790 0.3805 None gnomAD-4.0.0 3.22298E-04
30927 1 I/L 1 rs1416836304 0.3805 None gnomAD-3.1.2 6.57E-06
30927 1 I/L 1 rs1416836304 0.3805 None gnomAD-4.0.0 6.57091E-06
30927 1 I/M 1 None 0.3805 None gnomAD-4.0.0 4.77716E-06
30927 1 I/T 1 None 0.3805 None gnomAD-4.0.0 6.15957E-06
30927 1 I/V 1 rs1416836304 0.3805 None gnomAD-2.1.1 8.05E-06
30927 1 I/V 1 rs1416836304 0.3805 None gnomAD-4.0.0 3.18457E-06
30928 2 D/H 2 rs397517756 0.4751 None gnomAD-2.1.1 1.07216E-04
30928 2 D/H 2 rs397517756 0.4751 None gnomAD-3.1.2 1.51196E-04
30928 2 D/H 2 rs397517756 0.4751 None gnomAD-4.0.0 1.23979E-04
30929 3 A/T 3 rs1192451781 0.7391 None gnomAD-2.1.1 4.03E-06
30929 3 A/T 3 rs1192451781 0.7391 None gnomAD-4.0.0 6.37127E-06
30931 5 F/L 7 rs1210776511 0.2295 None gnomAD-2.1.1 7.15E-06
30931 5 F/L 7 rs1210776511 0.2295 None gnomAD-3.1.2 6.57E-06
30931 5 F/L 7 rs1210776511 0.2295 None gnomAD-4.0.0 1.5929E-06
30933 7 Q/H 9 rs1553532340 0.5547 None gnomAD-4.0.0 1.20032E-06
30933 7 Q/P 9 None 0.5547 None gnomAD-4.0.0 1.36915E-06
30933 7 Q/R 9 None 0.5547 None gnomAD-4.0.0 1.36915E-06
30934 8 T/A 11 None 0.3578 None gnomAD-4.0.0 1.20032E-06
30934 8 T/I 11 rs774501308 0.3578 None gnomAD-2.1.1 4.03E-06
30934 8 T/I 11 rs774501308 0.3578 None gnomAD-4.0.0 1.36928E-06
30935 9 H/L 13 None 0.3175 None gnomAD-4.0.0 1.59358E-06
30935 9 H/Q 13 None 0.3175 None gnomAD-4.0.0 3.42314E-06
30936 10 V/I 14 rs200476500 0.4599 None gnomAD-2.1.1 7.25E-05
30936 10 V/I 14 rs200476500 0.4599 None gnomAD-3.1.2 7.23E-05
30936 10 V/I 14 rs200476500 0.4599 None gnomAD-4.0.0 1.80439E-04
30939 13 A/S 23 rs773375451 0.4147 None gnomAD-2.1.1 4.03E-06
30939 13 A/T 23 None 0.4147 None gnomAD-4.0.0 1.20032E-06
30940 14 G/E 24 rs770455196 0.3429 None gnomAD-2.1.1 4.03E-06
30940 14 G/E 24 rs770455196 0.3429 None gnomAD-4.0.0 1.36946E-06
30941 15 A/D 25 rs768960050 0.2590 None gnomAD-2.1.1 4.03E-06
30941 15 A/D 25 rs768960050 0.2590 None gnomAD-3.1.2 6.57E-06
30941 15 A/D 25 rs768960050 0.2590 None gnomAD-4.0.0 3.72075E-06
30941 15 A/G 25 None 0.2590 None gnomAD-4.0.0 6.84735E-07
30941 15 A/T 25 rs777150584 0.2590 None gnomAD-2.1.1 1.61E-05
30941 15 A/T 25 rs777150584 0.2590 None gnomAD-3.1.2 1.31E-05
30941 15 A/T 25 rs777150584 0.2590 None gnomAD-4.0.0 1.61232E-05
30942 16 S/R 26 rs1575477437 0.3298 None gnomAD-4.0.0 6.84699E-07
30943 17 I/T 28 None 0.1268 None gnomAD-4.0.0 1.59378E-06
30944 18 R/C 29 rs1393282264 0.6916 None gnomAD-2.1.1 4.03E-06
30944 18 R/C 29 rs1393282264 0.6916 None gnomAD-4.0.0 8.90155E-06
30944 18 R/H 29 rs755972883 0.6916 None gnomAD-2.1.1 1.21749E-04
30944 18 R/H 29 rs755972883 0.6916 None gnomAD-3.1.2 9.2E-05
30944 18 R/H 29 rs755972883 0.6916 None gnomAD-4.0.0 5.9536E-05
30944 18 R/S 29 rs1393282264 0.6916 None gnomAD-4.0.0 2.0542E-06
30945 19 L/F 30 None 0.0911 None gnomAD-4.0.0 4.78217E-06
30946 20 F/L 31 rs1462805478 0.3536 None gnomAD-2.1.1 4.03E-06
30946 20 F/L 31 rs1462805478 0.3536 None gnomAD-4.0.0 1.36935E-06
30946 20 F/V 31 rs1462805478 0.3536 None gnomAD-2.1.1 3.19E-05
30946 20 F/V 31 rs1462805478 0.3536 None gnomAD-3.1.2 6.57E-06
30946 20 F/V 31 rs1462805478 0.3536 None gnomAD-4.0.0 6.5722E-06
30947 21 I/T 33 rs566234008 0.1138 None gnomAD-2.1.1 7.15E-06
30947 21 I/T 33 rs566234008 0.1138 None gnomAD-3.1.2 1.97E-05
30947 21 I/T 33 rs566234008 0.1138 None gnomAD-4.0.0 3.71998E-06
30948 22 A/D 34 None 0.1591 None gnomAD-4.0.0 2.05387E-06
30948 22 A/V 34 None 0.1591 None gnomAD-4.0.0 6.84625E-07
30950 24 Q/H 38 None 0.6076 None gnomAD-4.0.0 7.20193E-06
30951 25 G/A 40 None 0.1682 None gnomAD-4.0.0 6.84481E-07
30951 25 G/D 40 None 0.1682 None gnomAD-4.0.0 6.84481E-07
30951 25 G/V 40 None 0.1682 None gnomAD-4.0.0 6.84481E-07
30953 27 P/L 42 None 0.6410 None gnomAD-4.0.0 1.59255E-06
30954 28 T/I 43 rs72648248 0.5029 None gnomAD-2.1.1 3.93E-05
30954 28 T/I 43 rs72648248 0.5029 None gnomAD-3.1.2 3.29E-05
30954 28 T/I 43 rs72648248 0.5029 None gnomAD-4.0.0 2.78922E-05
30954 28 T/S 43 rs778473278 0.5029 None gnomAD-2.1.1 2.01E-05
30954 28 T/S 43 rs778473278 0.5029 None gnomAD-3.1.2 6.58E-06
30954 28 T/S 43 rs778473278 0.5029 None gnomAD-4.0.0 5.57886E-06
30955 29 P/L 44 rs1371353912 0.1379 None gnomAD-2.1.1 4.02E-06
30955 29 P/L 44 rs1371353912 0.1379 None gnomAD-4.0.0 1.59213E-06
30955 29 P/T 44 rs1323009434 0.1379 None gnomAD-3.1.2 6.57E-06
30955 29 P/T 44 rs1323009434 0.1379 None gnomAD-4.0.0 3.84489E-06
30957 31 A/V 46 None 0.2282 None gnomAD-4.0.0 6.84339E-07
30960 34 S/N 49 rs373494929 0.4187 None gnomAD-2.1.1 4.02E-06
30960 34 S/R 49 rs968631165 0.4187 None gnomAD-2.1.1 7.14E-06
30960 34 S/R 49 rs968631165 0.4187 None gnomAD-3.1.2 1.31E-05
30960 34 S/R 49 rs968631165 0.4187 None gnomAD-4.0.0 9.29632E-06
30961 35 K/Q 50 None 0.1765 None gnomAD-4.0.0 4.78976E-06
30961 35 K/R 50 rs756055571 0.1765 None gnomAD-2.1.1 4.02E-06
30961 35 K/R 50 rs756055571 0.1765 None gnomAD-4.0.0 1.59149E-06
30962 36 P/A 51 None 0.5989 None gnomAD-4.0.0 6.84261E-07
30962 36 P/S 51 None 0.5989 None gnomAD-4.0.0 4.10557E-06
30964 38 S/A 55 rs752684712 0.3331 None gnomAD-2.1.1 3.62E-05
30964 38 S/A 55 rs752684712 0.3331 None gnomAD-3.1.2 6.57E-06
30964 38 S/A 55 rs752684712 0.3331 None gnomAD-4.0.0 1.15302E-05
30966 40 L/I 58 None 0.1838 None gnomAD-4.0.0 3.18272E-06
30966 40 L/P 58 None 0.1838 None gnomAD-4.0.0 1.59129E-06
30967 41 S/N 69 rs1249072254 0.5371 None gnomAD-4.0.0 4.80129E-06
30967 41 S/R 69 None 0.5371 None gnomAD-4.0.0 3.4211E-06
30969 43 R/P 73 None 0.2858 None gnomAD-4.0.0 6.84213E-07
30969 43 R/Q 73 rs751345368 0.2858 None gnomAD-2.1.1 8.04E-06
30969 43 R/Q 73 rs751345368 0.2858 None gnomAD-4.0.0 5.47371E-06
30969 43 R/W 73 rs754767262 0.2858 None gnomAD-2.1.1 1.21E-05
30969 43 R/W 73 rs754767262 0.2858 None gnomAD-3.1.2 6.57E-06
30969 43 R/W 73 rs754767262 0.2858 None gnomAD-4.0.0 1.54913E-05
30970 44 A/T 102 rs766530422 0.1868 None gnomAD-2.1.1 8.04E-06
30970 44 A/T 102 rs766530422 0.1868 None gnomAD-4.0.0 3.18245E-06
30972 46 I/S 123 rs773430543 0.3269 None gnomAD-2.1.1 4.02E-06
30972 46 I/S 123 rs773430543 0.3269 None gnomAD-4.0.0 3.18239E-06
30973 47 H/P 125 None 0.6125 None gnomAD-4.0.0 1.20032E-06
30973 47 H/Q 125 rs765351582 0.6125 None gnomAD-2.1.1 4.02E-06
30973 47 H/Q 125 rs765351582 0.6125 None gnomAD-4.0.0 6.84188E-07
30974 48 T/I 127 None 0.3441 None gnomAD-4.0.0 1.59117E-06
30975 49 T/I 130 None 0.1814 None gnomAD-4.0.0 6.84192E-07
30975 49 T/K 130 rs761971680 0.1814 None gnomAD-2.1.1 8.04E-06
30975 49 T/K 130 rs761971680 0.1814 None gnomAD-3.1.2 3.94E-05
30975 49 T/K 130 rs761971680 0.1814 None gnomAD-4.0.0 8.05575E-06
30976 50 D/E 131 None 0.6079 None gnomAD-4.0.0 6.8419E-07
30976 50 D/N 131 rs777345218 0.6079 None gnomAD-2.1.1 7.14E-06
30976 50 D/N 131 rs777345218 0.6079 None gnomAD-3.1.2 1.31E-05
30976 50 D/N 131 rs777345218 0.6079 None gnomAD-4.0.0 5.12397E-06
30976 50 D/Y 131 None 0.6079 None gnomAD-4.0.0 1.59117E-06
30978 52 F/L 135 None 0.2116 None gnomAD-4.0.0 1.20032E-06
30979 53 S/G 136 rs1169211686 0.0880 None gnomAD-2.1.1 7.14E-06
30979 53 S/G 136 rs1169211686 0.0880 None gnomAD-3.1.2 6.57E-06
30979 53 S/G 136 rs1169211686 0.0880 None gnomAD-4.0.0 6.57142E-06
30979 53 S/N 136 rs1430466843 0.0880 None gnomAD-2.1.1 4.02E-06
30979 53 S/N 136 rs1430466843 0.0880 None gnomAD-4.0.0 1.59117E-06
30980 54 T/N 137 None 0.1642 None gnomAD-4.0.0 1.20032E-06
30981 55 L/P 138 None 0.0854 None gnomAD-4.0.0 7.52609E-06
30984 58 E/G 141 rs770525487 0.4673 None gnomAD-2.1.1 2.41E-05
30984 58 E/G 141 rs770525487 0.4673 None gnomAD-3.1.2 6.57E-06
30984 58 E/G 141 rs770525487 0.4673 None gnomAD-4.0.0 7.68584E-06
30984 58 E/K 141 rs775878805 0.4673 None gnomAD-2.1.1 1.21E-05
30984 58 E/K 141 rs775878805 0.4673 None gnomAD-4.0.0 7.95573E-06
30985 59 N/T 143 rs748877597 0.7487 None gnomAD-2.1.1 1.21E-05
30985 59 N/T 143 rs748877597 0.7487 None gnomAD-4.0.0 2.73676E-06
30986 60 C/R 144 None 0.0818 None gnomAD-4.0.0 1.20032E-06
30986 60 C/S 144 rs1181542972 0.0818 None gnomAD-2.1.1 4.02E-06
30986 60 C/S 144 rs1181542972 0.0818 None gnomAD-4.0.0 2.40064E-06
30987 61 N/S 145 rs2154147602 0.3527 None gnomAD-3.1.2 6.57E-06
30987 61 N/Y 145 None 0.3527 None gnomAD-4.0.0 1.08029E-05
30988 62 R/K 146 None 0.8240 None gnomAD-4.0.0 1.59116E-06
30989 63 N/I 148 rs755136924 0.6790 None gnomAD-2.1.1 4.02E-06
30989 63 N/I 148 rs755136924 0.6790 None gnomAD-3.1.2 1.31E-05
30989 63 N/I 148 rs755136924 0.6790 None gnomAD-4.0.0 1.31415E-05
30989 63 N/S 148 rs755136924 0.6790 None gnomAD-2.1.1 4.02E-06
30989 63 N/S 148 rs755136924 0.6790 None gnomAD-3.1.2 6.57E-06
30989 63 N/S 148 rs755136924 0.6790 None gnomAD-4.0.0 4.33765E-06
30990 64 D/E 149 rs781038013 0.1750 None gnomAD-2.1.1 4.02E-06
30990 64 D/E 149 rs781038013 0.1750 None gnomAD-4.0.0 1.59113E-06
30990 64 D/H 149 rs747622770 0.1750 None gnomAD-3.1.2 6.57E-06
30990 64 D/H 149 rs747622770 0.1750 None gnomAD-4.0.0 9.29525E-06
30990 64 D/N 149 rs747622770 0.1750 None gnomAD-2.1.1 4.02E-06
30990 64 D/N 149 rs747622770 0.1750 None gnomAD-4.0.0 6.84191E-07
30990 64 D/V 149 rs1206561468 0.1750 None gnomAD-2.1.1 4.02E-06
30990 64 D/V 149 rs1206561468 0.1750 None gnomAD-4.0.0 1.59113E-06
30990 64 D/Y 149 None 0.1750 None gnomAD-4.0.0 1.36838E-06
30991 65 A/V 151 None 0.3067 None gnomAD-4.0.0 1.20032E-06
30992 66 G/R 152 rs1277609891 0.2640 None gnomAD-2.1.1 4.02E-06
30992 66 G/R 152 rs1277609891 0.2640 None gnomAD-4.0.0 1.59114E-06
30993 67 K/N 153 rs754893239 0.6940 None gnomAD-4.0.0 1.36836E-06
30994 68 Y/H 154 rs1698158751 0.1419 None gnomAD-4.0.0 6.8418E-07
30994 68 Y/N 154 None 0.1419 None gnomAD-4.0.0 6.8418E-07
30995 69 T/N 155 rs886042408 0.2429 None gnomAD-2.1.1 8.05E-06
30995 69 T/N 155 rs886042408 0.2429 None gnomAD-3.1.2 1.97E-05
30995 69 T/N 155 rs886042408 0.2429 None gnomAD-4.0.0 8.96709E-06
30996 70 L/F 156 rs1698155054 0.0827 None gnomAD-4.0.0 1.20032E-06
30996 70 L/P 156 rs751341499 0.0827 None gnomAD-2.1.1 8.05E-06
30996 70 L/P 156 rs751341499 0.0827 None gnomAD-4.0.0 5.47345E-06
30997 71 T/I 157 rs981213729 0.3264 None gnomAD-2.1.1 4.03E-06
30997 71 T/I 157 rs981213729 0.3264 None gnomAD-4.0.0 6.15764E-06
30998 72 V/M 158 rs766129755 0.1205 None gnomAD-2.1.1 1.61E-05
30998 72 V/M 158 rs766129755 0.1205 None gnomAD-3.1.2 6.57E-06
30998 72 V/M 158 rs766129755 0.1205 None gnomAD-4.0.0 4.33773E-06
31001 75 N/D 162 None 1.0638 None gnomAD-4.0.0 1.20032E-06
31001 75 N/S 162 rs1308531791 1.0638 None gnomAD-2.1.1 4.03E-06
31001 75 N/S 162 rs1308531791 1.0638 None gnomAD-4.0.0 6.15761E-06
31002 76 S/I 163 rs180975448 0.5019 None gnomAD-2.1.1 6.25348E-04
31002 76 S/I 163 rs180975448 0.5019 None gnomAD-3.1.2 4.79796E-04
31002 76 S/I 163 rs180975448 0.5019 None 1000 genomes 1.99681E-04
31002 76 S/I 163 rs180975448 0.5019 None gnomAD-4.0.0 8.25343E-04
31002 76 S/R 163 rs758706423 0.5019 None gnomAD-2.1.1 4.02E-06
31003 77 G/A 164 rs1698144956 0.2879 None gnomAD-3.1.2 6.57E-06
31003 77 G/A 164 rs1698144956 0.2879 None gnomAD-4.0.0 2.47872E-06
31003 77 G/S 164 rs765552665 0.2879 None gnomAD-4.0.0 1.20032E-06
31004 78 S/N 165 rs762024916 0.5254 None gnomAD-2.1.1 2.01E-05
31004 78 S/N 165 rs762024916 0.5254 None gnomAD-4.0.0 7.52596E-06
31005 79 K/Q 166 None 0.4274 None gnomAD-4.0.0 1.20032E-06
31008 82 T/R 171 rs1287048789 0.3185 None gnomAD-3.1.2 6.57E-06
31008 82 T/R 171 rs1287048789 0.3185 None gnomAD-4.0.0 6.57281E-06
31011 85 V/A 174 None 0.1269 None gnomAD-4.0.0 1.59111E-06
31011 85 V/M 174 rs369206712 0.1269 None gnomAD-2.1.1 4.64E-05
31011 85 V/M 174 rs369206712 0.1269 None gnomAD-3.1.2 1.05183E-04
31011 85 V/M 174 rs369206712 0.1269 None gnomAD-4.0.0 2.66466E-05
31012 86 K/E 175 None 0.6049 None gnomAD-4.0.0 1.59113E-06
31012 86 K/I 175 rs1698136089 0.6049 None gnomAD-3.1.2 6.57E-06
31012 86 K/I 175 rs1698136089 0.6049 None gnomAD-4.0.0 6.57212E-06
31012 86 K/N 175 None 0.6049 None gnomAD-4.0.0 1.59112E-06
31013 87 V/A 177 rs775726229 0.2363 None gnomAD-2.1.1 4.02E-06
31013 87 V/A 177 rs775726229 0.2363 None gnomAD-3.1.2 6.58E-06
31013 87 V/A 177 rs775726229 0.2363 None gnomAD-4.0.0 6.57523E-06
31013 87 V/G 177 None 0.2363 None gnomAD-4.0.0 3.18225E-06
31013 87 V/M 177 None 0.2363 None gnomAD-4.0.0 3.18222E-06