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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2174 1 I/M 1 rs1414401674 0.4763 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.4763 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.4763 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.4763 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.4114 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.3513 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.6871 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.5418 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.5275 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1540 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1540 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.3639 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.1691 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.2953 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.2953 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0776 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0776 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.1917 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.1917 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0925 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0925 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.4317 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.4317 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.2950 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 0.6995 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 0.6995 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 0.6995 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.1975 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.1975 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.7904 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.2002 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.2002 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.2157 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.1697 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.1697 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1244 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.7570 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.3858 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.3858 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.3858 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.6880 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.6880 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.6880 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.6880 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1367 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.7202 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.7202 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.5697 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.3364 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.3364 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.3364 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 1.1516 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1489 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1489 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.1691 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.1691 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.1691 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.6800 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2422 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2422 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2422 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2422 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2422 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.3975 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.3975 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.3975 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.3975 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.4093 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.7059 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.1984 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.1984 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.1984 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1270 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.1844 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0663 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1315 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0574 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0574 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0574 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.2457 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.2457 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.6010 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.6010 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.0856 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.0856 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.0856 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.0856 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.2775 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.6215 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.6215 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.6215 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.6215 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.6215 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.6215 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.6215 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.6215 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.6215 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.6215 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.6215 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.4167 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.2960 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.4266 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0775 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1412 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1412 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.3995 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.3995 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.3995 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.3995 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.3995 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.3995 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.7546 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.7546 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.2289 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.2289 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.2289 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.5122 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.5122 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.1027 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.3521 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.3521 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4424 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4424 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.0894 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.0894 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.4271 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.2118 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.2118 None gnomAD-4.0.0 1.59173E-06