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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16264 3 L/V 3 rs1243976427 0.2917 None gnomAD-2.1.1 1.63E-05
16264 3 L/V 3 rs1243976427 0.2917 None gnomAD-3.1.2 1.32E-05
16264 3 L/V 3 rs1243976427 0.2917 None gnomAD-4.0.0 6.43784E-06
16265 4 L/F 8 None 0.8739 None gnomAD-4.0.0 1.20032E-06
16266 5 A/D 9 rs2056981023 0.7752 None gnomAD-3.1.2 6.58E-06
16266 5 A/D 9 rs2056981023 0.7752 None gnomAD-4.0.0 6.58267E-06
16266 5 A/S 9 rs1189172328 0.7752 None gnomAD-4.0.0 1.20032E-06
16266 5 A/V 9 None 0.7752 None gnomAD-4.0.0 1.59811E-06
16267 6 G/D 11 rs917290755 0.3258 None gnomAD-2.1.1 4.06E-06
16267 6 G/D 11 rs917290755 0.3258 None gnomAD-3.1.2 6.58E-06
16267 6 G/D 11 rs917290755 0.3258 None gnomAD-4.0.0 6.58432E-06
16267 6 G/V 11 None 0.3258 None gnomAD-4.0.0 1.59677E-06
16268 7 L/I 13 rs1474027032 0.3191 None gnomAD-3.1.2 1.97E-05
16268 7 L/I 13 rs1474027032 0.3191 None gnomAD-4.0.0 5.83361E-05
16270 9 V/A 16 rs2056979046 0.1832 None gnomAD-4.0.0 4.78585E-06
16270 9 V/I 16 rs533178407 0.1832 None gnomAD-2.1.1 3.65E-05
16270 9 V/I 16 rs533178407 0.1832 None gnomAD-3.1.2 1.32E-05
16270 9 V/I 16 rs533178407 0.1832 None 1000 genomes 1.99681E-04
16270 9 V/I 16 rs533178407 0.1832 None gnomAD-4.0.0 1.30284E-05
16271 10 K/E 18 rs2056978022 0.7000 None gnomAD-3.1.2 6.58E-06
16271 10 K/E 18 rs2056978022 0.7000 None gnomAD-4.0.0 6.58129E-06
16272 11 A/T 23 None 0.2952 None gnomAD-4.0.0 1.59525E-06
16274 13 T/A 25 None 0.3132 None gnomAD-4.0.0 1.20032E-06
16274 13 T/N 25 rs1576463553 0.3132 None gnomAD-4.0.0 1.59486E-06
16274 13 T/P 25 rs564109979 0.3132 None gnomAD-2.1.1 4.05E-06
16274 13 T/P 25 rs564109979 0.3132 None gnomAD-3.1.2 6.58E-06
16274 13 T/P 25 rs564109979 0.3132 None 1000 genomes 1.99681E-04
16274 13 T/P 25 rs564109979 0.3132 None gnomAD-4.0.0 6.57635E-06
16275 14 K/E 26 None 0.4014 None gnomAD-4.0.0 6.84864E-07
16275 14 K/N 26 rs2056975496 0.4014 None gnomAD-3.1.2 6.58E-06
16275 14 K/N 26 rs2056975496 0.4014 None gnomAD-4.0.0 4.3422E-06
16275 14 K/Q 26 None 0.4014 None gnomAD-4.0.0 6.84864E-07
16276 15 I/T 28 rs759916327 0.1346 None gnomAD-2.1.1 3.24E-05
16276 15 I/T 28 rs759916327 0.1346 None gnomAD-4.0.0 1.91754E-05
16276 15 I/V 28 None 0.1346 None gnomAD-4.0.0 2.40064E-06
16277 16 E/K 29 rs1325831010 0.4705 None gnomAD-2.1.1 4.05E-06
16277 16 E/K 29 rs1325831010 0.4705 None gnomAD-4.0.0 1.59478E-06
16279 18 P/A 31 rs867039661 0.5139 None gnomAD-4.0.0 6.84814E-07
16279 18 P/L 31 None 0.5139 None gnomAD-4.0.0 1.59456E-06
16279 18 P/T 31 None 0.5139 None gnomAD-4.0.0 1.36963E-06
16280 19 A/T 33 rs372911542 0.2157 None gnomAD-2.1.1 4.85E-05
16280 19 A/T 33 rs372911542 0.2157 None gnomAD-3.1.2 5.93E-05
16280 19 A/T 33 rs372911542 0.2157 None gnomAD-4.0.0 3.53571E-05
16281 20 T/I 34 rs1553703631 0.5913 None gnomAD-3.1.2 6.58E-06
16281 20 T/I 34 rs1553703631 0.5913 None gnomAD-4.0.0 6.58293E-06
16282 21 V/A 35 rs878854396 0.2763 None gnomAD-4.0.0 1.59435E-06
16282 21 V/I 35 rs776265864 0.2763 None gnomAD-2.1.1 5.02E-05
16282 21 V/I 35 rs776265864 0.2763 None gnomAD-3.1.2 6.58E-05
16282 21 V/I 35 rs776265864 0.2763 None gnomAD-4.0.0 4.59015E-05
16284 23 G/R 40 rs368527534 0.3834 None gnomAD-2.1.1 3.23E-05
16284 23 G/R 40 rs368527534 0.3834 None gnomAD-3.1.2 1.98E-05
16284 23 G/R 40 rs368527534 0.3834 None gnomAD-4.0.0 4.03166E-05
16285 24 K/Q 41 rs780017546 0.9470 None gnomAD-2.1.1 2.83E-05
16285 24 K/Q 41 rs780017546 0.9470 None gnomAD-3.1.2 3.29E-05
16285 24 K/Q 41 rs780017546 0.9470 None gnomAD-4.0.0 1.11643E-05
16286 25 P/T 42 rs1033904978 0.5514 None gnomAD-4.0.0 1.20032E-06
16287 26 E/K 43 None 0.7626 None gnomAD-4.0.0 1.20032E-06
16288 27 P/L 44 None 0.2256 None gnomAD-4.0.0 6.84763E-07
16288 27 P/R 44 rs745848084 0.2256 None gnomAD-2.1.1 4.04E-06
16288 27 P/R 44 rs745848084 0.2256 None gnomAD-4.0.0 3.42381E-06
16288 27 P/S 44 rs894986526 0.2256 None gnomAD-4.0.0 3.18848E-06
16289 28 K/T 45 None 0.7613 None gnomAD-4.0.0 1.20032E-06
16290 29 I/V 46 rs778793317 0.2327 None gnomAD-2.1.1 1.21E-05
16290 29 I/V 46 rs778793317 0.2327 None gnomAD-4.0.0 7.97067E-06
16293 32 T/K 49 None 0.1919 None gnomAD-4.0.0 1.44039E-05
16295 34 A/S 51 rs757122712 0.5183 None gnomAD-2.1.1 7.17E-06
16295 34 A/S 51 rs757122712 0.5183 None gnomAD-3.1.2 1.98E-05
16295 34 A/S 51 rs757122712 0.5183 None gnomAD-4.0.0 5.13363E-06
16295 34 A/V 51 None 0.5183 None gnomAD-4.0.0 1.20032E-06
16297 36 M/I 55 rs754110019 0.7309 None gnomAD-2.1.1 1.21E-05
16297 36 M/I 55 rs754110019 0.7309 None gnomAD-4.0.0 5.47771E-06
16297 36 M/R 55 rs1488829244 0.7309 None gnomAD-2.1.1 4.04E-06
16297 36 M/R 55 rs1488829244 0.7309 None gnomAD-4.0.0 1.36942E-06
16297 36 M/T 55 None 0.7309 None gnomAD-4.0.0 9.58597E-06
16297 36 M/V 55 None 0.7309 None gnomAD-4.0.0 1.20032E-06
16298 37 I/F 56 rs778200357 0.7866 None gnomAD-2.1.1 1.62E-05
16298 37 I/F 56 rs778200357 0.7866 None gnomAD-4.0.0 7.96968E-06
16301 40 Q/H 70 rs886038833 0.5208 None gnomAD-2.1.1 8.08E-06
16301 40 Q/H 70 rs886038833 0.5208 None gnomAD-3.1.2 6.59E-06
16301 40 Q/H 70 rs886038833 0.5208 None gnomAD-4.0.0 3.72147E-06
16302 41 D/E 73 rs2056963801 0.3937 None gnomAD-4.0.0 6.84735E-07
16303 42 K/N 109 None 1.0823 None gnomAD-4.0.0 6.84727E-07
16303 42 K/R 109 None 1.0823 None gnomAD-4.0.0 1.20032E-06
16304 43 R/I 115 None 0.1929 None gnomAD-4.0.0 2.0542E-06
16306 45 T/A 122 rs767671184 0.4412 None gnomAD-2.1.1 4.04E-06
16306 45 T/A 122 rs767671184 0.4412 None gnomAD-4.0.0 6.84727E-07
16306 45 T/I 122 rs2056961264 0.4412 None gnomAD-3.1.2 6.59E-06
16306 45 T/I 122 rs2056961264 0.4412 None gnomAD-4.0.0 6.59074E-06
16306 45 T/P 122 rs767671184 0.4412 None gnomAD-2.1.1 4.04E-06
16306 45 T/P 122 rs767671184 0.4412 None gnomAD-4.0.0 3.42364E-06
16307 46 I/M 123 rs755394057 0.1858 None gnomAD-4.0.0 6.84721E-07
16307 46 I/T 123 None 0.1858 None gnomAD-4.0.0 2.7389E-06
16307 46 I/V 123 rs1559813119 0.1858 None gnomAD-4.0.0 1.20032E-06
16309 48 N/H 127 None 0.5458 None gnomAD-4.0.0 1.20032E-06
16309 48 N/T 127 rs752071275 0.5458 None gnomAD-2.1.1 8.07E-06
16309 48 N/T 127 rs752071275 0.5458 None gnomAD-3.1.2 6.58E-06
16309 48 N/T 127 rs752071275 0.5458 None gnomAD-4.0.0 3.72129E-06
16310 49 V/I 130 rs1401698279 0.4738 None gnomAD-2.1.1 4.04E-06
16310 49 V/I 130 rs1401698279 0.4738 None gnomAD-4.0.0 1.59407E-06
16311 50 P/H 131 rs763372996 0.6792 None gnomAD-2.1.1 1.61E-05
16311 50 P/H 131 rs763372996 0.6792 None gnomAD-3.1.2 3.29E-05
16311 50 P/H 131 rs763372996 0.6792 None gnomAD-4.0.0 1.73673E-05
16311 50 P/L 131 None 0.6792 None gnomAD-4.0.0 6.84726E-07
16311 50 P/S 131 None 0.6792 None gnomAD-4.0.0 1.59404E-06
16312 51 K/N 134 None 0.7662 None gnomAD-4.0.0 2.40064E-06
16313 52 K/I 135 None 0.6040 None gnomAD-4.0.0 1.59406E-06
16314 53 S/Y 136 rs375909143 0.1198 None gnomAD-2.1.1 4.04E-06
16315 54 T/P 137 rs760198616 0.2330 None gnomAD-2.1.1 8.07E-06
16315 54 T/P 137 rs760198616 0.2330 None gnomAD-4.0.0 2.05414E-06
16316 55 V/M 138 None 0.0953 None gnomAD-4.0.0 1.20033E-06
16318 57 I/L 140 rs962564634 0.0997 None gnomAD-3.1.2 1.32E-05
16318 57 I/L 140 rs962564634 0.0997 None gnomAD-4.0.0 1.31709E-05
16318 57 I/T 140 rs72677243 0.0997 None gnomAD-2.1.1 1.17164E-03
16318 57 I/T 140 rs72677243 0.0997 None gnomAD-3.1.2 9.55242E-04
16318 57 I/T 140 rs72677243 0.0997 None 1000 genomes 3.99361E-04
16318 57 I/T 140 rs72677243 0.0997 None gnomAD-4.0.0 1.02707E-03
16318 57 I/V 140 rs962564634 0.0997 None gnomAD-2.1.1 4.04E-06
16318 57 I/V 140 rs962564634 0.0997 None gnomAD-4.0.0 3.42363E-06
16319 58 V/A 141 rs374837771 0.4006 None gnomAD-2.1.1 1.43E-05
16319 58 V/A 141 rs374837771 0.4006 None gnomAD-3.1.2 2.63E-05
16319 58 V/A 141 rs374837771 0.4006 None gnomAD-4.0.0 1.9227E-05
16323 62 R/I 146 None 0.4780 None gnomAD-4.0.0 1.59405E-06
16324 63 S/I 148 rs878948684 0.4828 None gnomAD-2.1.1 4.04E-06
16324 63 S/I 148 rs878948684 0.4828 None gnomAD-4.0.0 7.53197E-06
16324 63 S/R 148 rs774497699 0.4828 None gnomAD-2.1.1 4.04E-06
16324 63 S/R 148 rs774497699 0.4828 None gnomAD-4.0.0 3.18801E-06
16326 65 T/A 151 rs1247538583 0.2575 None gnomAD-2.1.1 8.07E-06
16326 65 T/A 151 rs1247538583 0.2575 None gnomAD-4.0.0 3.18818E-06
16327 66 G/S 152 None 0.2138 None gnomAD-4.0.0 1.20032E-06
16328 67 T/I 153 rs770839243 0.3484 None gnomAD-2.1.1 1.61E-05
16328 67 T/I 153 rs770839243 0.3484 None gnomAD-4.0.0 6.16275E-06
16329 68 Y/C 154 rs1456507512 0.1302 None gnomAD-2.1.1 4.04E-06
16329 68 Y/C 154 rs1456507512 0.1302 None gnomAD-4.0.0 2.73902E-06
16331 70 I/T 156 None 0.1211 None gnomAD-4.0.0 2.73913E-06
16332 71 E/K 157 rs879092258 0.3776 None gnomAD-3.1.2 6.58E-06
16332 71 E/K 157 rs879092258 0.3776 None gnomAD-4.0.0 2.56733E-06
16333 72 A/S 158 rs756253347 0.1594 None gnomAD-2.1.1 4.04E-06
16333 72 A/S 158 rs756253347 0.1594 None gnomAD-4.0.0 1.59482E-06
16333 72 A/V 158 None 0.1594 None gnomAD-4.0.0 1.3697E-06
16334 73 V/A 159 None 0.3368 None gnomAD-4.0.0 1.59507E-06
16334 73 V/M 159 rs541384076 0.3368 None gnomAD-2.1.1 7.68E-05
16334 73 V/M 159 rs541384076 0.3368 None gnomAD-3.1.2 1.32E-05
16334 73 V/M 159 rs541384076 0.3368 None 1000 genomes 5.99042E-04
16334 73 V/M 159 rs541384076 0.3368 None gnomAD-4.0.0 2.66757E-05
16336 75 V/A 162 None 0.8003 None gnomAD-4.0.0 2.40064E-06
16336 75 V/L 162 None 0.8003 None gnomAD-4.0.0 1.5965E-06
16337 76 C/S 163 None 0.6623 None gnomAD-4.0.0 8.9083E-06
16337 76 C/W 163 rs575621631 0.6623 None gnomAD-2.1.1 4.05E-05
16337 76 C/W 163 rs575621631 0.6623 None gnomAD-3.1.2 1.32E-05
16337 76 C/W 163 rs575621631 0.6623 None 1000 genomes 1.99681E-04
16337 76 C/W 163 rs575621631 0.6623 None gnomAD-4.0.0 2.6688E-05
16337 76 C/Y 163 rs1335648118 0.6623 None gnomAD-2.1.1 3.19E-05
16337 76 C/Y 163 rs1335648118 0.6623 None gnomAD-4.0.0 1.59713E-06
16338 77 G/S 164 rs752053096 0.3694 None gnomAD-3.1.2 6.58E-06
16338 77 G/S 164 rs752053096 0.3694 None gnomAD-4.0.0 6.58467E-06
16339 78 R/Q 165 rs558487304 0.8052 None gnomAD-2.1.1 2.03E-05
16339 78 R/Q 165 rs558487304 0.8052 None gnomAD-3.1.2 6.59E-06
16339 78 R/Q 165 rs558487304 0.8052 None gnomAD-4.0.0 1.6769E-05
16339 78 R/W 165 rs201793958 0.8052 None gnomAD-2.1.1 1.00704E-04
16339 78 R/W 165 rs201793958 0.8052 None gnomAD-3.1.2 2.96638E-04
16339 78 R/W 165 rs201793958 0.8052 None gnomAD-4.0.0 5.34041E-05
16340 79 A/T 166 rs1465666542 0.4892 None gnomAD-2.1.1 4.06E-06
16341 80 T/S 168 None 0.6546 None gnomAD-4.0.0 1.60165E-06
16342 81 A/S 169 rs1429247714 0.4296 None gnomAD-2.1.1 1.63E-05
16342 81 A/S 169 rs1429247714 0.4296 None gnomAD-4.0.0 3.43153E-06
16343 82 V/M 171 rs2056942530 0.4384 None gnomAD-4.0.0 1.20032E-06
16344 83 V/A 172 None 0.1883 None gnomAD-4.0.0 1.20032E-06
16345 84 E/K 173 None 0.4064 None gnomAD-4.0.0 1.61337E-06
16346 85 V/A 174 None 0.1162 None gnomAD-4.0.0 1.20032E-06
16348 87 V/I 177 rs562289342 0.0913 None gnomAD-2.1.1 2.08E-05
16348 87 V/I 177 rs562289342 0.0913 None gnomAD-3.1.2 6.59E-06
16348 87 V/I 177 rs562289342 0.0913 None 1000 genomes 1.99681E-04
16348 87 V/I 177 rs562289342 0.0913 None gnomAD-4.0.0 6.24557E-06