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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2078 1 P/S 1 rs777863327 0.1903 None gnomAD-2.1.1 7.99E-06
2078 1 P/S 1 rs777863327 0.1903 None gnomAD-4.0.0 1.27247E-05
2079 2 K/E 2 None 0.3988 None gnomAD-4.0.0 1.59057E-06
2079 2 K/R 2 rs1395240027 0.3988 None gnomAD-2.1.1 3.18E-05
2079 2 K/R 2 rs1395240027 0.3988 None gnomAD-3.1.2 6.57E-06
2079 2 K/R 2 rs1395240027 0.3988 None gnomAD-4.0.0 6.57013E-06
2081 4 F/L 4 None 0.6255 None gnomAD-4.0.0 6.84087E-07
2082 5 E/K 5 None 0.2916 None gnomAD-2.1.1 7.99E-06
2082 5 E/K 5 None 0.2916 None gnomAD-3.1.2 2.63E-05
2082 5 E/K 5 None 0.2916 None gnomAD-4.0.0 1.79681E-05
2082 5 E/Q 5 rs750064248 0.2916 None gnomAD-4.0.0 6.84091E-07
2083 6 R/G 7 None 0.7657 None gnomAD-4.0.0 1.59059E-06
2083 6 R/I 7 rs781676050 0.7657 None gnomAD-4.0.0 9.54356E-06
2084 7 I/T 8 None 0.0944 None gnomAD-4.0.0 1.59059E-06
2084 7 I/V 8 rs369388581 0.0944 None gnomAD-2.1.1 7.99E-06
2084 7 I/V 8 rs369388581 0.0944 None gnomAD-3.1.2 1.31E-05
2084 7 I/V 8 rs369388581 0.0944 None gnomAD-4.0.0 5.57613E-06
2087 10 Q/R 13 rs1477007971 0.1774 None gnomAD-2.1.1 3.99E-06
2087 10 Q/R 13 rs1477007971 0.1774 None gnomAD-4.0.0 1.5906E-06
2089 12 V/A 16 rs1436344691 0.1875 None gnomAD-2.1.1 3.18E-05
2089 12 V/A 16 rs1436344691 0.1875 None gnomAD-3.1.2 6.57E-06
2089 12 V/A 16 rs1436344691 0.1875 None gnomAD-4.0.0 1.85873E-06
2089 12 V/E 16 None 0.1875 None gnomAD-4.0.0 3.42044E-06
2090 13 G/C 18 rs752147588 0.2902 None gnomAD-2.1.1 7.19E-05
2090 13 G/C 18 rs752147588 0.2902 None gnomAD-3.1.2 6.57E-06
2090 13 G/C 18 rs752147588 0.2902 None gnomAD-4.0.0 4.02738E-05
2090 13 G/D 18 rs1199041868 0.2902 None gnomAD-2.1.1 3.99E-06
2090 13 G/S 18 rs752147588 0.2902 None gnomAD-2.1.1 3.99E-06
2090 13 G/S 18 rs752147588 0.2902 None gnomAD-4.0.0 2.73636E-06
2091 14 Q/R 23 rs879012357 0.7111 None gnomAD-2.1.1 3.18E-05
2094 17 D/E 26 None 0.3892 None gnomAD-4.0.0 1.59066E-06
2094 17 D/H 26 None 0.3892 None gnomAD-4.0.0 2.40064E-06
2096 19 H/R 29 None 0.4320 None gnomAD-4.0.0 1.59062E-06
2097 20 F/L 30 rs2092132864 0.0957 None gnomAD-4.0.0 1.36819E-06
2098 21 R/G 31 rs763722868 0.3327 None gnomAD-2.1.1 1.2E-05
2098 21 R/G 31 rs763722868 0.3327 None gnomAD-4.0.0 2.05228E-06
2098 21 R/Q 31 rs565791174 0.3327 None gnomAD-2.1.1 1.2E-05
2098 21 R/Q 31 rs565791174 0.3327 None gnomAD-3.1.2 1.31E-05
2098 21 R/Q 31 rs565791174 0.3327 None 1000 genomes 1.99681E-04
2098 21 R/Q 31 rs565791174 0.3327 None gnomAD-4.0.0 1.30108E-05
2098 21 R/W 31 rs763722868 0.3327 None gnomAD-2.1.1 1.2E-05
2098 21 R/W 31 rs763722868 0.3327 None gnomAD-4.0.0 1.16296E-05
2099 22 V/F 33 rs1055695339 0.1090 None gnomAD-3.1.2 1.97E-05
2099 22 V/F 33 rs1055695339 0.1090 None gnomAD-4.0.0 1.97182E-05
2100 23 R/I 34 None 0.1774 None gnomAD-4.0.0 1.59069E-06
2102 25 V/L 38 rs767322897 0.2809 None gnomAD-2.1.1 3.99E-06
2102 25 V/L 38 rs767322897 0.2809 None gnomAD-3.1.2 3.29E-05
2102 25 V/L 38 rs767322897 0.2809 None gnomAD-4.0.0 2.78826E-05
2102 25 V/M 38 rs767322897 0.2809 None gnomAD-2.1.1 1.2E-05
2102 25 V/M 38 rs767322897 0.2809 None gnomAD-4.0.0 1.09458E-05
2103 26 G/R 40 rs2092130428 0.2260 None gnomAD-3.1.2 6.57E-06
2103 26 G/R 40 rs2092130428 0.2260 None gnomAD-4.0.0 2.47851E-06
2104 27 K/E 41 None 0.9403 None gnomAD-4.0.0 1.36822E-06
2104 27 K/R 41 None 0.9403 None gnomAD-4.0.0 1.36822E-06
2105 28 P/R 42 rs547169244 0.4825 None gnomAD-2.1.1 1.99E-05
2105 28 P/R 42 rs547169244 0.4825 None gnomAD-3.1.2 1.32E-05
2105 28 P/R 42 rs547169244 0.4825 None 1000 genomes 1.99681E-04
2105 28 P/R 42 rs547169244 0.4825 None gnomAD-4.0.0 1.02455E-05
2106 29 D/E 43 None 0.8751 None gnomAD-4.0.0 4.7888E-06
2106 29 D/H 43 rs774275945 0.8751 None gnomAD-2.1.1 2.83E-05
2106 29 D/H 43 rs774275945 0.8751 None gnomAD-3.1.2 1.31E-05
2106 29 D/H 43 rs774275945 0.8751 None gnomAD-4.0.0 4.33739E-06
2107 30 P/R 44 None 0.1655 None gnomAD-4.0.0 1.20032E-06
2108 31 E/K 45 rs762999586 0.8555 None gnomAD-2.1.1 2.84E-05
2108 31 E/K 45 rs762999586 0.8555 None gnomAD-3.1.2 2.63E-05
2108 31 E/K 45 rs762999586 0.8555 None gnomAD-4.0.0 2.29271E-05
2109 32 C/R 46 rs773335568 0.1669 None gnomAD-2.1.1 3.99E-06
2109 32 C/R 46 rs773335568 0.1669 None gnomAD-4.0.0 1.59081E-06
2109 32 C/Y 46 rs769946776 0.1669 None gnomAD-2.1.1 5.58E-05
2109 32 C/Y 46 rs769946776 0.1669 None gnomAD-4.0.0 1.16301E-05
2111 34 W/L 48 rs2092127553 0.0840 None gnomAD-4.0.0 1.59083E-06
2113 36 K/E 50 rs1574647040 0.2701 None gnomAD-4.0.0 1.59076E-06
2114 37 N/S 51 rs372289753 0.5293 None gnomAD-2.1.1 3.98E-06
2114 37 N/S 51 rs372289753 0.5293 None gnomAD-3.1.2 6.57E-06
2114 37 N/S 51 rs372289753 0.5293 None gnomAD-4.0.0 5.1231E-06
2115 38 G/A 52 None 0.3914 None gnomAD-4.0.0 1.59077E-06
2115 38 G/C 52 rs1183661272 0.3914 None gnomAD-3.1.2 6.57E-06
2115 38 G/C 52 rs1183661272 0.3914 None gnomAD-4.0.0 2.02997E-06
2116 39 V/F 55 None 0.6500 None gnomAD-4.0.0 1.59079E-06
2116 39 V/I 55 rs1412544693 0.6500 None gnomAD-2.1.1 3.98E-06
2116 39 V/I 55 rs1412544693 0.6500 None gnomAD-4.0.0 1.59079E-06
2118 41 I/T 58 rs56404770 0.1656 None gnomAD-2.1.1 1.66425E-03
2118 41 I/T 58 rs56404770 0.1656 None gnomAD-3.1.2 4.92426E-03
2118 41 I/T 58 rs56404770 0.1656 None 1000 genomes 4.19329E-03
2118 41 I/T 58 rs56404770 0.1656 None gnomAD-4.0.0 9.27537E-04
2119 42 E/Q 59 rs869312098 0.9361 None gnomAD-4.0.0 4.77242E-06
2120 43 R/L 70 rs141142920 0.3613 None gnomAD-2.1.1 3.02765E-04
2120 43 R/L 70 rs141142920 0.3613 None gnomAD-3.1.2 5.92E-05
2120 43 R/L 70 rs141142920 0.3613 None 1000 genomes 9.98403E-04
2120 43 R/L 70 rs141142920 0.3613 None gnomAD-4.0.0 1.20821E-04
2120 43 R/P 70 rs141142920 0.3613 None gnomAD-2.1.1 3.98E-06
2120 43 R/P 70 rs141142920 0.3613 None gnomAD-4.0.0 6.84126E-07
2120 43 R/Q 70 None 0.3613 None gnomAD-2.1.1 1.38103E-04
2120 43 R/Q 70 None 0.3613 None gnomAD-3.1.2 3.28697E-04
2120 43 R/Q 70 None 0.3613 None gnomAD-4.0.0 1.49953E-04
2120 43 R/W 70 rs116158152 0.3613 None gnomAD-2.1.1 1.99E-05
2120 43 R/W 70 rs116158152 0.3613 None gnomAD-3.1.2 1.97E-05
2120 43 R/W 70 rs116158152 0.3613 None 1000 genomes 1.99681E-04
2120 43 R/W 70 rs116158152 0.3613 None gnomAD-4.0.0 1.1153E-05
2122 45 D/E 109 rs2092123649 1.0957 None gnomAD-3.1.2 6.57E-06
2122 45 D/E 109 rs2092123649 1.0957 None gnomAD-4.0.0 6.57341E-06
2122 45 D/H 109 rs748790571 1.0957 None gnomAD-2.1.1 3.98E-06
2122 45 D/H 109 rs748790571 1.0957 None gnomAD-4.0.0 1.59079E-06
2123 46 R/L 115 rs530807674 0.2517 None gnomAD-2.1.1 1.42E-05
2123 46 R/L 115 rs530807674 0.2517 None gnomAD-3.1.2 2.63E-05
2123 46 R/L 115 rs530807674 0.2517 None 1000 genomes 1.99681E-04
2123 46 R/L 115 rs530807674 0.2517 None gnomAD-4.0.0 8.67428E-06
2123 46 R/Q 115 rs530807674 0.2517 None gnomAD-2.1.1 3.19E-05
2123 46 R/Q 115 rs530807674 0.2517 None gnomAD-3.1.2 5.26E-05
2123 46 R/Q 115 rs530807674 0.2517 None gnomAD-4.0.0 2.2307E-05
2123 46 R/W 115 rs777316854 0.2517 None gnomAD-2.1.1 3.19E-05
2123 46 R/W 115 rs777316854 0.2517 None gnomAD-3.1.2 3.94E-05
2123 46 R/W 115 rs777316854 0.2517 None gnomAD-4.0.0 1.17732E-05
2125 48 Y/F 122 rs922207759 0.2397 None gnomAD-4.0.0 1.59073E-06
2125 48 Y/H 122 rs2092122812 0.2397 None gnomAD-3.1.2 6.57E-06
2125 48 Y/H 122 rs2092122812 0.2397 None gnomAD-4.0.0 2.56139E-06
2126 49 W/L 123 rs184312157 0.1599 None gnomAD-2.1.1 3.98E-06
2126 49 W/L 123 rs184312157 0.1599 None gnomAD-3.1.2 6.57E-06
2126 49 W/L 123 rs184312157 0.1599 None 1000 genomes 1.99681E-04
2126 49 W/L 123 rs184312157 0.1599 None gnomAD-4.0.0 6.56763E-06
2126 49 W/R 123 rs1236527703 0.1599 None gnomAD-2.1.1 3.98E-06
2126 49 W/R 123 rs1236527703 0.1599 None gnomAD-4.0.0 1.59074E-06
2127 50 Y/C 124 rs397517688 0.3017 None gnomAD-3.1.2 6.57E-06
2127 50 Y/C 124 rs397517688 0.3017 None gnomAD-4.0.0 6.81577E-06
2127 50 Y/H 124 None 0.3017 None gnomAD-4.0.0 1.20032E-06
2128 51 W/R 125 rs866674875 0.3937 None gnomAD-4.0.0 1.59072E-06
2128 51 W/S 125 rs751340835 0.3937 None gnomAD-2.1.1 7.97E-06
2128 51 W/S 125 rs751340835 0.3937 None gnomAD-4.0.0 4.77213E-06
2129 52 P/A 127 rs1216558940 0.3175 None gnomAD-2.1.1 3.98E-06
2129 52 P/A 127 rs1216558940 0.3175 None gnomAD-4.0.0 1.59075E-06
2130 53 E/K 130 rs762914675 0.3042 None gnomAD-2.1.1 4.38E-05
2130 53 E/K 130 rs762914675 0.3042 None gnomAD-3.1.2 6.57E-06
2130 53 E/K 130 rs762914675 0.3042 None gnomAD-4.0.0 1.92087E-05
2131 54 D/H 131 None 1.0121 None gnomAD-4.0.0 6.84111E-07
2131 54 D/N 131 None 1.0121 None gnomAD-4.0.0 6.84111E-07
2132 55 N/H 134 None 0.3925 None gnomAD-4.0.0 2.40064E-06
2133 56 V/I 135 None 0.0607 None gnomAD-4.0.0 1.59071E-06
2136 59 L/F 138 rs761940711 0.0705 None gnomAD-2.1.1 3.98E-06
2136 59 L/F 138 rs761940711 0.0705 None gnomAD-3.1.2 1.32E-05
2136 59 L/F 138 rs761940711 0.0705 None gnomAD-4.0.0 2.47854E-06
2137 60 V/I 139 rs938420145 0.0896 None gnomAD-3.1.2 1.31E-05
2137 60 V/I 139 rs938420145 0.0896 None gnomAD-4.0.0 6.56797E-06
2138 61 I/M 140 rs368391123 0.1417 None gnomAD-3.1.2 1.31E-05
2138 61 I/M 140 rs368391123 0.1417 None gnomAD-4.0.0 3.04488E-06
2138 61 I/V 140 rs2092116298 0.1417 None gnomAD-4.0.0 1.59068E-06
2139 62 R/T 141 rs1250660325 0.3897 None gnomAD-3.1.2 6.57E-06
2139 62 R/T 141 rs1250660325 0.3897 None gnomAD-4.0.0 6.57333E-06
2140 63 D/E 143 rs777009984 0.6532 None gnomAD-2.1.1 5.67E-05
2140 63 D/E 143 rs777009984 0.6532 None gnomAD-3.1.2 5.91E-05
2140 63 D/E 143 rs777009984 0.6532 None gnomAD-4.0.0 3.53174E-05
2142 65 T/S 145 None 0.2889 None gnomAD-4.0.0 6.84114E-06
2143 66 A/V 146 rs1561277273 0.4600 None gnomAD-2.1.1 3.98E-06
2144 67 E/K 148 rs747447866 0.8368 None gnomAD-2.1.1 3.98E-06
2144 67 E/K 148 rs747447866 0.8368 None gnomAD-4.0.0 1.59074E-06
2145 68 D/N 149 None 0.1582 None gnomAD-4.0.0 1.20032E-06
2146 69 S/F 151 None 0.2759 None gnomAD-4.0.0 1.59071E-06
2147 70 A/T 152 rs528516043 0.1265 None gnomAD-2.1.1 3.99E-06
2147 70 A/T 152 rs528516043 0.1265 None gnomAD-3.1.2 6.57E-06
2147 70 A/T 152 rs528516043 0.1265 None 1000 genomes 1.99681E-04
2147 70 A/T 152 rs528516043 0.1265 None gnomAD-4.0.0 2.47826E-06
2148 71 S/N 153 rs2092111633 0.2552 None gnomAD-4.0.0 1.59072E-06
2149 72 I/L 154 rs967525723 0.0980 None gnomAD-3.1.2 6.57E-06
2149 72 I/L 154 rs967525723 0.0980 None gnomAD-4.0.0 6.57082E-06
2149 72 I/V 154 rs967525723 0.0980 None gnomAD-4.0.0 1.36821E-06
2150 73 M/T 155 rs761352132 0.2087 None gnomAD-2.1.1 1.59E-05
2150 73 M/T 155 rs761352132 0.2087 None gnomAD-3.1.2 2.63E-05
2150 73 M/T 155 rs761352132 0.2087 None gnomAD-4.0.0 1.92074E-05
2150 73 M/V 155 None 0.2087 None gnomAD-4.0.0 4.77202E-06
2151 74 V/A 156 None 0.0908 None gnomAD-4.0.0 1.59066E-06
2151 74 V/I 156 rs755654942 0.0908 None gnomAD-2.1.1 3.98E-06
2151 74 V/I 156 rs755654942 0.0908 None gnomAD-4.0.0 1.59065E-06
2152 75 K/Q 157 None 0.2296 None gnomAD-4.0.0 1.59064E-06
2153 76 A/P 158 rs747598396 0.1058 None gnomAD-2.1.1 3.99E-06
2153 76 A/P 158 rs747598396 0.1058 None gnomAD-4.0.0 1.59068E-06
2153 76 A/T 158 rs747598396 0.1058 None gnomAD-2.1.1 3.99E-06
2154 77 I/M 159 rs780879621 0.2721 None gnomAD-2.1.1 7.97E-06
2154 77 I/M 159 rs780879621 0.2721 None gnomAD-4.0.0 2.73641E-06
2154 77 I/V 159 rs2154345699 0.2721 None gnomAD-4.0.0 2.05229E-06
2155 78 N/S 161 None 0.1448 None gnomAD-4.0.0 3.18128E-06
2156 79 I/L 162 rs751393901 0.8906 None gnomAD-2.1.1 7.97E-06
2156 79 I/L 162 rs751393901 0.8906 None gnomAD-4.0.0 1.36819E-06
2156 79 I/T 162 None 0.8906 None gnomAD-4.0.0 1.20032E-06
2156 79 I/V 162 rs751393901 0.8906 None gnomAD-2.1.1 3.19E-05
2156 79 I/V 162 rs751393901 0.8906 None gnomAD-3.1.2 6.57E-06
2156 79 I/V 162 rs751393901 0.8906 None gnomAD-4.0.0 6.19594E-06
2157 80 A/T 163 None 0.6625 None gnomAD-4.0.0 1.20032E-06
2157 80 A/V 163 rs1217516150 0.6625 None gnomAD-2.1.1 3.98E-06
2157 80 A/V 163 rs1217516150 0.6625 None gnomAD-4.0.0 9.57731E-06
2158 81 G/A 164 None 0.2843 None gnomAD-4.0.0 1.32035E-05
2158 81 G/R 164 None 0.2843 None gnomAD-4.0.0 1.59064E-06
2160 83 T/A 166 rs397517693 0.2494 None gnomAD-2.1.1 3.54E-05
2160 83 T/A 166 rs397517693 0.2494 None gnomAD-3.1.2 2.63E-05
2160 83 T/A 166 rs397517693 0.2494 None 1000 genomes 1.99681E-04
2160 83 T/A 166 rs397517693 0.2494 None gnomAD-4.0.0 4.02744E-05
2160 83 T/I 166 rs750401975 0.2494 None gnomAD-2.1.1 3.98E-06
2160 83 T/I 166 rs750401975 0.2494 None gnomAD-4.0.0 2.05229E-06
2160 83 T/N 166 None 0.2494 None gnomAD-4.0.0 6.84097E-07
2161 84 S/T 168 None 0.3337 None gnomAD-4.0.0 1.20032E-06
2162 85 S/R 169 rs2092105586 0.1197 None gnomAD-4.0.0 8.40225E-06
2162 85 S/T 169 None 0.1197 None gnomAD-4.0.0 1.59064E-06
2163 86 H/L 171 rs765031763 0.5687 None gnomAD-2.1.1 3.98E-06
2163 86 H/L 171 rs765031763 0.5687 None gnomAD-4.0.0 4.78868E-06
2164 87 A/S 172 None 0.0930 None gnomAD-4.0.0 6.84115E-07
2164 87 A/T 172 rs56285559 0.0930 None gnomAD-2.1.1 1.38128E-04
2164 87 A/T 172 rs56285559 0.0930 None gnomAD-3.1.2 2.63E-05
2164 87 A/T 172 rs56285559 0.0930 None gnomAD-4.0.0 4.52329E-05
2164 87 A/V 172 rs1338410239 0.0930 None gnomAD-2.1.1 7.08E-06
2164 87 A/V 172 rs1338410239 0.0930 None gnomAD-3.1.2 1.97E-05
2164 87 A/V 172 rs1338410239 0.0930 None gnomAD-4.0.0 6.40352E-06
2167 90 L/F 175 None 0.4453 None gnomAD-4.0.0 2.05238E-06
2168 91 V/D 177 None 0.1538 None gnomAD-4.0.0 1.59086E-06
2168 91 V/I 177 rs764454260 0.1538 None gnomAD-2.1.1 3.98E-06
2168 91 V/I 177 rs764454260 0.1538 None gnomAD-4.0.0 1.59089E-06