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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27170 1 P/L 1 rs774553407 0.5043 None gnomAD-2.1.1 4.03E-06
27170 1 P/L 1 rs774553407 0.5043 None gnomAD-4.0.0 1.59194E-06
27171 2 C/R 2 rs727504678 0.1240 None gnomAD-2.1.1 1.61E-05
27171 2 C/R 2 rs727504678 0.1240 None gnomAD-3.1.2 1.31E-05
27171 2 C/R 2 rs727504678 0.1240 None gnomAD-4.0.0 7.43746E-06
27171 2 C/Y 2 None 0.1240 None gnomAD-4.0.0 1.59192E-06
27172 3 D/G 3 rs1248956657 0.3214 None gnomAD-2.1.1 4.03E-06
27172 3 D/G 3 rs1248956657 0.3214 None gnomAD-4.0.0 6.84328E-07
27172 3 D/V 3 None 0.3214 None gnomAD-4.0.0 6.15895E-06
27173 4 P/A 4 rs754325718 0.3319 None gnomAD-2.1.1 6.44E-05
27173 4 P/A 4 rs754325718 0.3319 None gnomAD-3.1.2 1.24972E-04
27173 4 P/A 4 rs754325718 0.3319 None gnomAD-4.0.0 6.9423E-05
27173 4 P/L 4 rs766831675 0.3319 None gnomAD-4.0.0 1.09495E-05
27174 5 P/L 5 None 0.1193 None gnomAD-4.0.0 5.47467E-06
27174 5 P/R 5 None 0.1193 None gnomAD-4.0.0 1.36867E-06
27175 6 G/A 6 None 0.2166 None gnomAD-4.0.0 1.20032E-06
27175 6 G/D 6 rs1704984751 0.2166 None gnomAD-3.1.2 6.57E-06
27175 6 G/D 6 rs1704984751 0.2166 None gnomAD-4.0.0 6.57471E-06
27175 6 G/S 6 rs749305586 0.2166 None gnomAD-2.1.1 1.21E-05
27175 6 G/S 6 rs749305586 0.2166 None gnomAD-3.1.2 6.58E-06
27175 6 G/S 6 rs749305586 0.2166 None gnomAD-4.0.0 8.05774E-06
27176 7 R/C 7 rs778385749 0.4443 None gnomAD-2.1.1 1.21E-05
27176 7 R/C 7 rs778385749 0.4443 None gnomAD-4.0.0 2.66894E-05
27176 7 R/G 7 rs778385749 0.4443 None gnomAD-4.0.0 2.73738E-06
27176 7 R/H 7 rs199726308 0.4443 None gnomAD-2.1.1 3.58E-05
27176 7 R/H 7 rs199726308 0.4443 None gnomAD-3.1.2 1.97E-05
27176 7 R/H 7 rs199726308 0.4443 None gnomAD-4.0.0 7.43805E-06
27176 7 R/L 7 rs199726308 0.4443 None gnomAD-2.1.1 1.18033E-04
27176 7 R/L 7 rs199726308 0.4443 None gnomAD-3.1.2 1.7754E-04
27176 7 R/L 7 rs199726308 0.4443 None gnomAD-4.0.0 1.62397E-04
27176 7 R/S 7 None 0.4443 None gnomAD-2.1.1 4.03E-06
27176 7 R/S 7 None 0.4443 None gnomAD-4.0.0 6.84347E-07
27177 8 P/A 9 None 0.1249 None gnomAD-4.0.0 6.84337E-07
27177 8 P/S 9 rs781633519 0.1249 None gnomAD-4.0.0 6.84337E-07
27178 9 E/K 11 rs397517721 0.7652 None gnomAD-3.1.2 1.32E-05
27178 9 E/K 11 rs397517721 0.7652 None gnomAD-4.0.0 1.31518E-05
27180 11 I/T 13 rs182126530 0.5377 None gnomAD-2.1.1 7.43883E-04
27180 11 I/T 13 rs182126530 0.5377 None gnomAD-3.1.2 1.72906E-03
27180 11 I/T 13 rs182126530 0.5377 None 1000 genomes 9.98403E-04
27180 11 I/T 13 rs182126530 0.5377 None gnomAD-4.0.0 4.67309E-04
27181 12 V/A 14 rs750155984 0.4855 None gnomAD-2.1.1 4.03E-06
27182 13 I/F 15 rs879178329 0.1880 None gnomAD-2.1.1 4.03E-06
27182 13 I/F 15 rs879178329 0.1880 None gnomAD-4.0.0 6.84348E-07
27182 13 I/N 15 rs373448447 0.1880 None gnomAD-2.1.1 3.22E-05
27182 13 I/N 15 rs373448447 0.1880 None gnomAD-3.1.2 4.6E-05
27182 13 I/N 15 rs373448447 0.1880 None 1000 genomes 3.99361E-04
27182 13 I/N 15 rs373448447 0.1880 None gnomAD-4.0.0 7.43719E-06
27182 13 I/V 15 rs879178329 0.1880 None gnomAD-3.1.2 6.57E-06
27182 13 I/V 15 rs879178329 0.1880 None gnomAD-4.0.0 1.23962E-06
27183 14 T/I 16 rs1559331817 0.2027 None gnomAD-2.1.1 4.03E-06
27183 14 T/I 16 rs1559331817 0.2027 None gnomAD-4.0.0 1.59203E-06
27185 16 N/D 18 None 0.4887 None gnomAD-4.0.0 1.20032E-06
27185 16 N/I 18 rs756828159 0.4887 None gnomAD-2.1.1 4.03E-06
27185 16 N/I 18 rs756828159 0.4887 None gnomAD-4.0.0 1.59206E-06
27186 17 N/K 19 None 0.2546 None gnomAD-4.0.0 2.05308E-06
27186 17 N/S 19 rs368933290 0.2546 None gnomAD-4.0.0 1.59208E-06
27187 18 V/F 20 rs764117771 0.0980 None gnomAD-2.1.1 4.03E-06
27187 18 V/F 20 rs764117771 0.0980 None gnomAD-4.0.0 4.79063E-06
27188 19 T/I 21 None 0.1696 None gnomAD-4.0.0 1.36877E-06
27189 20 L/V 22 rs142391957 0.0945 None gnomAD-2.1.1 2.51E-05
27189 20 L/V 22 rs142391957 0.0945 None gnomAD-3.1.2 8.55E-05
27189 20 L/V 22 rs142391957 0.0945 None 1000 genomes 1.99681E-04
27189 20 L/V 22 rs142391957 0.0945 None gnomAD-4.0.0 1.54951E-05
27191 22 W/C 24 rs267599035 0.1118 None gnomAD-4.0.0 1.20032E-06
27192 23 K/N 25 rs1188322990 0.8488 None gnomAD-4.0.0 1.59238E-06
27193 24 K/N 26 rs565307960 0.7337 None gnomAD-2.1.1 5.26E-05
27193 24 K/N 26 rs565307960 0.7337 None gnomAD-4.0.0 6.84501E-07
27195 26 A/V 28 None 0.6830 None gnomAD-4.0.0 1.59254E-06
27196 27 Y/S 29 rs1704959686 0.4306 None gnomAD-3.1.2 1.31E-05
27196 27 Y/S 29 rs1704959686 0.4306 None gnomAD-4.0.0 1.31437E-05
27197 28 D/N 30 rs1704957831 0.2384 None gnomAD-3.1.2 6.57E-06
27197 28 D/N 30 rs1704957831 0.2384 None gnomAD-4.0.0 2.0299E-06
27198 29 G/D 31 rs1469148662 0.1545 None gnomAD-2.1.1 4.04E-06
27198 29 G/D 31 rs1469148662 0.1545 None gnomAD-4.0.0 1.59274E-06
27199 30 G/C 32 rs771111893 0.3929 None gnomAD-2.1.1 4.05E-06
27199 30 G/C 32 rs771111893 0.3929 None gnomAD-4.0.0 1.59297E-06
27199 30 G/D 32 None 0.3929 None gnomAD-4.0.0 1.20032E-06
27200 31 S/N 33 rs551750079 0.2198 None gnomAD-2.1.1 4.05E-06
27200 31 S/N 33 rs551750079 0.2198 None gnomAD-3.1.2 6.57E-06
27200 31 S/N 33 rs551750079 0.2198 None 1000 genomes 1.99681E-04
27200 31 S/N 33 rs551750079 0.2198 None gnomAD-4.0.0 1.85979E-06
27200 31 S/R 33 rs773107849 0.2198 None gnomAD-4.0.0 6.84547E-07
27201 32 K/N 34 None 0.6671 None gnomAD-4.0.0 1.59297E-06
27203 34 T/I 36 rs770336276 0.3077 None gnomAD-3.1.2 6.58E-06
27203 34 T/I 36 rs770336276 0.3077 None gnomAD-4.0.0 6.57601E-06
27203 34 T/K 36 rs770336276 0.3077 None gnomAD-2.1.1 8.12E-06
27203 34 T/K 36 rs770336276 0.3077 None gnomAD-3.1.2 6.58E-06
27203 34 T/K 36 rs770336276 0.3077 None gnomAD-4.0.0 5.58013E-06
27204 35 G/R 37 None 0.0898 None gnomAD-4.0.0 1.36929E-06
27206 37 I/T 39 rs369868913 0.2526 None gnomAD-2.1.1 1.44E-05
27206 37 I/T 39 rs369868913 0.2526 None gnomAD-3.1.2 1.97E-05
27206 37 I/T 39 rs369868913 0.2526 None gnomAD-4.0.0 1.2402E-05
27207 38 V/A 40 rs755441250 0.0922 None gnomAD-2.1.1 1.63E-05
27207 38 V/A 40 rs755441250 0.0922 None gnomAD-4.0.0 7.97123E-06
27207 38 V/I 40 rs1348567940 0.0922 None gnomAD-2.1.1 4.07E-06
27207 38 V/I 40 rs1348567940 0.0922 None gnomAD-4.0.0 3.42381E-06
27208 39 E/D 41 None 0.1534 None gnomAD-4.0.0 3.60097E-06
27208 39 E/K 41 None 0.1534 None gnomAD-4.0.0 1.20033E-06
27209 40 K/N 42 None 0.1707 None gnomAD-4.0.0 6.84885E-07
27209 40 K/R 42 None 0.1707 None gnomAD-4.0.0 1.20033E-06
27210 41 K/E 43 None 0.1710 None gnomAD-4.0.0 1.20033E-06
27210 41 K/T 43 rs1241055435 0.1710 None gnomAD-2.1.1 4.08E-06
27210 41 K/T 43 rs1241055435 0.1710 None gnomAD-4.0.0 1.59473E-06
27211 42 D/N 44 rs747343429 0.3460 None gnomAD-2.1.1 4.09E-06
27211 42 D/N 44 rs747343429 0.3460 None gnomAD-4.0.0 2.73964E-06
27213 44 P/L 54 None 0.5935 None gnomAD-4.0.0 1.59542E-06
27213 44 P/S 54 rs375058735 0.5935 None gnomAD-3.1.2 6.57E-06
27213 44 P/S 54 rs375058735 0.5935 None gnomAD-4.0.0 6.57298E-06
27213 44 P/T 54 rs375058735 0.5935 None gnomAD-2.1.1 4.09E-06
27214 45 D/A 60 rs1704936651 0.8812 None gnomAD-4.0.0 3.42485E-06
27214 45 D/N 60 None 0.8812 None gnomAD-4.0.0 6.85014E-07
27215 46 G/S 63 rs1704934974 0.2981 None gnomAD-3.1.2 6.57E-06
27215 46 G/S 63 rs1704934974 0.2981 None gnomAD-4.0.0 6.57289E-06
27215 46 G/V 63 None 0.2981 None gnomAD-4.0.0 2.74013E-06
27216 47 R/C 64 rs756815015 0.8227 None gnomAD-2.1.1 1.09E-05
27216 47 R/C 64 rs756815015 0.8227 None gnomAD-3.1.2 1.97E-05
27216 47 R/C 64 rs756815015 0.8227 None gnomAD-4.0.0 1.11676E-05
27216 47 R/H 64 rs371910831 0.8227 None gnomAD-2.1.1 3.27E-05
27216 47 R/H 64 rs371910831 0.8227 None gnomAD-3.1.2 4.6E-05
27216 47 R/H 64 rs371910831 0.8227 None gnomAD-4.0.0 2.544E-05
27217 48 W/C 65 rs1704929836 0.2818 None gnomAD-3.1.2 6.57E-06
27217 48 W/C 65 rs1704929836 0.2818 None gnomAD-4.0.0 6.57246E-06
27218 49 M/T 66 rs1332904652 0.3612 None gnomAD-4.0.0 2.40065E-06
27219 50 K/T 67 None 0.5236 None gnomAD-4.0.0 1.20032E-06
27220 51 A/V 68 rs1356967920 0.1401 None gnomAD-4.0.0 6.85005E-07
27221 52 S/R 69 rs1399668147 0.1148 None gnomAD-2.1.1 3.19E-05
27221 52 S/R 69 rs1399668147 0.1148 None gnomAD-3.1.2 6.57E-06
27221 52 S/R 69 rs1399668147 0.1148 None gnomAD-4.0.0 6.57333E-06
27223 54 T/I 72 rs755648922 0.7797 None gnomAD-2.1.1 4.1E-06
27223 54 T/I 72 rs755648922 0.7797 None gnomAD-4.0.0 6.16495E-06
27224 55 N/S 75 rs368443217 0.4438 None gnomAD-2.1.1 9.08E-05
27224 55 N/S 75 rs368443217 0.4438 None gnomAD-3.1.2 1.18298E-04
27224 55 N/S 75 rs368443217 0.4438 None 1000 genomes 1.99681E-04
27224 55 N/S 75 rs368443217 0.4438 None gnomAD-4.0.0 1.77392E-04
27225 56 V/I 77 rs375211424 0.1086 None gnomAD-2.1.1 8.36E-05
27225 56 V/I 77 rs375211424 0.1086 None gnomAD-3.1.2 1.77491E-04
27225 56 V/I 77 rs375211424 0.1086 None 1000 genomes 1.99681E-04
27225 56 V/I 77 rs375211424 0.1086 None gnomAD-4.0.0 5.70667E-05
27225 56 V/L 77 None 0.1086 None gnomAD-4.0.0 6.84972E-07
27229 60 E/K 90 None 0.3222 None gnomAD-4.0.0 1.59442E-06
27231 62 T/I 92 rs1704907132 0.3212 None gnomAD-3.1.2 6.57E-06
27231 62 T/I 92 rs1704907132 0.3212 None gnomAD-4.0.0 1.8604E-06
27232 63 V/A 93 None 0.1270 None gnomAD-4.0.0 3.60097E-06
27232 63 V/M 93 rs2154162679 0.1270 None gnomAD-4.0.0 1.59378E-06
27233 64 S/N 94 None 0.5873 None gnomAD-4.0.0 1.59359E-06
27234 65 G/E 96 rs372189553 0.5332 None gnomAD-2.1.1 3.96E-05
27234 65 G/E 96 rs372189553 0.5332 None gnomAD-3.1.2 5.26E-05
27234 65 G/E 96 rs372189553 0.5332 None gnomAD-4.0.0 3.96824E-05
27235 66 L/P 97 None 0.1271 None gnomAD-4.0.0 4.80129E-06
27235 66 L/V 97 None 0.1271 None gnomAD-4.0.0 1.20032E-06
27236 67 V/L 98 rs763018145 0.5543 None gnomAD-2.1.1 1.62E-05
27236 67 V/L 98 rs763018145 0.5543 None gnomAD-3.1.2 1.31E-05
27236 67 V/L 98 rs763018145 0.5543 None gnomAD-4.0.0 9.30021E-06
27238 69 D/Y 100 None 0.7168 None gnomAD-4.0.0 1.36899E-06
27239 70 Q/E 102 None 0.2408 None gnomAD-4.0.0 1.59268E-06
27240 71 R/I 103 rs1704895564 0.4974 None gnomAD-4.0.0 4.77754E-06
27240 71 R/S 103 rs1704894425 0.4974 None gnomAD-3.1.2 6.57E-06
27240 71 R/S 103 rs1704894425 0.4974 None gnomAD-4.0.0 6.57255E-06
27241 72 Y/H 104 rs773476805 0.0945 None gnomAD-2.1.1 4.04E-06
27241 72 Y/H 104 rs773476805 0.0945 None gnomAD-4.0.0 3.18443E-06
27242 73 E/G 105 None 0.1807 None gnomAD-4.0.0 1.36873E-06
27242 73 E/V 105 rs1210575101 0.1807 None gnomAD-2.1.1 4.04E-06
27242 73 E/V 105 rs1210575101 0.1807 None gnomAD-4.0.0 6.84363E-07
27244 75 R/T 107 None 0.1481 None gnomAD-4.0.0 1.20032E-06
27245 76 V/L 108 rs777316227 0.0739 None gnomAD-2.1.1 4.03E-06
27245 76 V/L 108 rs777316227 0.0739 None gnomAD-4.0.0 1.02648E-05
27246 77 I/T 109 rs367603381 0.1535 None gnomAD-2.1.1 3.22E-05
27246 77 I/T 109 rs367603381 0.1535 None gnomAD-3.1.2 3.29E-05
27246 77 I/T 109 rs367603381 0.1535 None gnomAD-4.0.0 2.04534E-05
27246 77 I/V 109 None 0.1535 None gnomAD-4.0.0 1.20032E-06
27247 78 A/E 110 None 0.0852 None gnomAD-4.0.0 6.84298E-07
27247 78 A/V 110 rs374380013 0.0852 None gnomAD-2.1.1 4.03E-06
27247 78 A/V 110 rs374380013 0.0852 None gnomAD-3.1.2 6.58E-06
27247 78 A/V 110 rs374380013 0.0852 None gnomAD-4.0.0 1.23959E-06
27248 79 R/I 111 None 0.4027 None gnomAD-4.0.0 7.95872E-06
27250 81 A/T 113 None 0.3503 None gnomAD-4.0.0 2.40064E-06
27250 81 A/V 113 None 0.3503 None gnomAD-4.0.0 1.20032E-06
27251 82 A/T 114 None 0.4012 None gnomAD-4.0.0 1.59162E-06
27253 84 N/K 116 None 0.3456 None gnomAD-4.0.0 2.73706E-06
27253 84 N/S 116 rs529055709 0.3456 None gnomAD-2.1.1 1.25061E-04
27253 84 N/S 116 rs529055709 0.3456 None gnomAD-3.1.2 7.89E-05
27253 84 N/S 116 rs529055709 0.3456 None 1000 genomes 5.99042E-04
27253 84 N/S 116 rs529055709 0.3456 None gnomAD-4.0.0 2.97456E-05
27254 85 F/L 117 rs958378883 0.4630 None gnomAD-2.1.1 4.02E-06
27254 85 F/L 117 rs958378883 0.4630 None gnomAD-4.0.0 1.02638E-05
27255 86 S/R 118 None 0.1153 None gnomAD-4.0.0 6.84249E-07
27256 87 E/G 119 rs748963818 0.6069 None gnomAD-2.1.1 4.43E-05
27256 87 E/G 119 rs748963818 0.6069 None gnomAD-4.0.0 1.09481E-05
27257 88 P/L 120 None 0.3108 None gnomAD-4.0.0 1.59149E-06
27258 89 S/C 121 rs755629282 0.1152 None gnomAD-2.1.1 4.02E-06
27258 89 S/C 121 rs755629282 0.1152 None gnomAD-4.0.0 6.84246E-07
27258 89 S/Y 121 None 0.1152 None gnomAD-4.0.0 6.84246E-07
27259 90 D/A 122 None 0.8283 None gnomAD-4.0.0 6.84241E-07
27259 90 D/G 122 rs1704865005 0.8283 None gnomAD-4.0.0 6.84241E-07
27259 90 D/V 122 None 0.8283 None gnomAD-4.0.0 6.84241E-07
27260 91 S/T 123 rs752173731 0.2086 None gnomAD-2.1.1 8.05E-06
27260 91 S/T 123 rs752173731 0.2086 None gnomAD-4.0.0 3.18286E-06
27261 92 S/G 124 None 0.1699 None gnomAD-4.0.0 1.59146E-06
27261 92 S/T 124 rs1704859697 0.1699 None gnomAD-3.1.2 6.57E-06
27261 92 S/T 124 rs1704859697 0.1699 None gnomAD-4.0.0 2.56249E-06
27264 95 I/L 127 None 0.1761 None gnomAD-4.0.0 1.59143E-06
27264 95 I/V 127 rs1704855362 0.1761 None gnomAD-3.1.2 6.57E-06
27264 95 I/V 127 rs1704855362 0.1761 None gnomAD-4.0.0 2.56236E-06
27265 96 T/I 129 rs371129005 0.2977 None gnomAD-2.1.1 3.22E-05
27265 96 T/I 129 rs371129005 0.2977 None gnomAD-3.1.2 1.05195E-04
27265 96 T/I 129 rs371129005 0.2977 None gnomAD-4.0.0 1.54936E-05
27266 97 A/S 130 rs2154162524 0.0758 None gnomAD-4.0.0 1.20033E-06
27267 98 R/K 131 rs975294048 0.6124 None gnomAD-3.1.2 1.31E-05
27267 98 R/K 131 rs975294048 0.6124 None gnomAD-4.0.0 1.31499E-05