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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22950 1 P/T 1 rs770007899 0.5878 None gnomAD-2.1.1 2.1E-05
22950 1 P/T 1 rs770007899 0.5878 None gnomAD-4.0.0 4.17234E-06
22951 2 T/I 2 None 0.6136 None gnomAD-4.0.0 1.20033E-06
22952 3 I/V 3 rs2046685725 0.1368 None gnomAD-3.1.2 1.32E-05
22952 3 I/V 3 rs2046685725 0.1368 None gnomAD-4.0.0 3.76378E-06
22954 5 D/N 5 None 1.0893 None gnomAD-4.0.0 6.92941E-07
22955 6 G/A 11 rs201381085 0.3098 None gnomAD-2.1.1 2.62379E-04
22955 6 G/A 11 rs201381085 0.3098 None gnomAD-3.1.2 3.16222E-04
22955 6 G/A 11 rs201381085 0.3098 None gnomAD-4.0.0 2.73163E-04
22959 10 K/T 18 None 0.6937 None gnomAD-4.0.0 1.62294E-06
22960 11 A/G 23 None 0.4563 None gnomAD-4.0.0 1.37942E-06
22960 11 A/T 23 None 0.4563 None gnomAD-4.0.0 1.20032E-06
22961 12 G/E 24 rs1244248488 0.3071 None gnomAD-2.1.1 1.22E-05
22961 12 G/E 24 rs1244248488 0.3071 None gnomAD-3.1.2 6.58E-06
22961 12 G/E 24 rs1244248488 0.3071 None gnomAD-4.0.0 6.48783E-06
22962 13 D/A 25 None 0.3836 None gnomAD-4.0.0 1.61509E-06
22962 13 D/Y 25 None 0.3836 None gnomAD-4.0.0 6.88569E-07
22963 14 T/P 26 rs771761816 0.3357 None gnomAD-2.1.1 4.46E-05
22963 14 T/P 26 rs771761816 0.3357 None gnomAD-3.1.2 6.58E-06
22963 14 T/P 26 rs771761816 0.3357 None gnomAD-4.0.0 1.12024E-05
22964 15 I/T 28 None 0.1179 None gnomAD-4.0.0 1.37371E-06
22965 16 V/A 29 None 0.3683 None gnomAD-4.0.0 1.20032E-06
22967 18 N/S 31 None 0.2691 None gnomAD-4.0.0 1.20032E-06
22968 19 A/D 32 None 0.0844 None gnomAD-4.0.0 1.37144E-06
22968 19 A/V 32 rs1331232420 0.0844 None gnomAD-2.1.1 3.19E-05
22968 19 A/V 32 rs1331232420 0.0844 None gnomAD-3.1.2 6.59E-06
22968 19 A/V 32 rs1331232420 0.0844 None gnomAD-4.0.0 1.24213E-06
22969 20 I/F 33 rs771013967 0.3165 None gnomAD-3.1.2 6.58E-06
22969 20 I/F 33 rs771013967 0.3165 None gnomAD-4.0.0 1.8626E-06
22969 20 I/V 33 rs771013967 0.3165 None gnomAD-4.0.0 6.17016E-06
22970 21 S/G 34 None 0.2560 None gnomAD-4.0.0 4.8013E-06
22971 22 I/F 35 rs1335554435 0.1336 None gnomAD-2.1.1 4.04E-06
22971 22 I/F 35 rs1335554435 0.1336 None gnomAD-4.0.0 3.19523E-06
22972 23 L/P 38 rs2046677771 0.5650 None gnomAD-3.1.2 1.97E-05
22972 23 L/P 38 rs2046677771 0.5650 None gnomAD-4.0.0 1.97392E-05
22973 24 G/S 40 None 0.1474 None gnomAD-4.0.0 3.18959E-06
22975 26 P/H 42 rs778464451 0.4009 None gnomAD-2.1.1 1.21E-05
22975 26 P/H 42 rs778464451 0.4009 None gnomAD-3.1.2 6.6E-06
22975 26 P/H 42 rs778464451 0.4009 None gnomAD-4.0.0 9.92482E-06
22975 26 P/L 42 None 0.4009 None gnomAD-4.0.0 6.847E-07
22975 26 P/R 42 rs778464451 0.4009 None gnomAD-3.1.2 6.6E-06
22975 26 P/R 42 rs778464451 0.4009 None gnomAD-4.0.0 6.59517E-06
22975 26 P/T 42 rs1218001244 0.4009 None gnomAD-2.1.1 4.03E-06
22975 26 P/T 42 rs1218001244 0.4009 None gnomAD-4.0.0 1.5939E-06
22976 27 L/F 43 None 0.3886 None gnomAD-4.0.0 1.59354E-06
22980 31 S/G 47 rs2046674740 0.4311 None gnomAD-3.1.2 6.59E-06
22980 31 S/G 47 rs2046674740 0.4311 None gnomAD-4.0.0 2.56537E-06
22982 33 S/F 49 rs372665902 0.1702 None gnomAD-2.1.1 1.21E-05
22982 33 S/F 49 rs372665902 0.1702 None gnomAD-3.1.2 1.32E-05
22982 33 S/F 49 rs372665902 0.1702 None gnomAD-4.0.0 1.48848E-05
22983 34 K/N 50 rs2046672689 0.1521 None gnomAD-4.0.0 6.84466E-07
22984 35 A/T 51 None 0.6651 None gnomAD-4.0.0 2.05334E-06
22987 38 D/N 56 rs749120610 0.8717 None gnomAD-2.1.1 1.21E-05
22987 38 D/N 56 rs749120610 0.8717 None gnomAD-4.0.0 1.27391E-05
22988 39 I/M 58 rs777786229 0.2110 None gnomAD-2.1.1 3.22E-05
22988 39 I/M 58 rs777786229 0.2110 None gnomAD-4.0.0 9.55317E-06
22988 39 I/N 58 None 0.2110 None gnomAD-4.0.0 1.59217E-06
22988 39 I/T 58 rs2046671312 0.2110 None gnomAD-4.0.0 1.59217E-06
22989 40 R/K 59 None 0.8889 None gnomAD-4.0.0 6.84373E-07
22989 40 R/S 59 rs1295839847 0.8889 None gnomAD-2.1.1 4.02E-06
22989 40 R/S 59 rs1295839847 0.8889 None gnomAD-4.0.0 1.59214E-06
22989 40 R/T 59 None 0.8889 None gnomAD-4.0.0 1.36875E-06
22992 43 D/E 109 rs755825278 1.0680 None gnomAD-2.1.1 4.02E-06
22992 43 D/G 109 rs2046668085 1.0680 None gnomAD-4.0.0 2.40064E-06
22992 43 D/Y 109 None 1.0680 None gnomAD-4.0.0 2.40064E-06
22993 44 I/T 115 rs2046666627 0.4613 None gnomAD-3.1.2 6.6E-06
22993 44 I/T 115 rs2046666627 0.4613 None gnomAD-4.0.0 6.5977E-06
22993 44 I/V 115 rs752579029 0.4613 None gnomAD-2.1.1 4.02E-06
22993 44 I/V 115 rs752579029 0.4613 None gnomAD-4.0.0 1.59204E-06
22994 45 T/I 121 rs183056142 0.1683 None gnomAD-2.1.1 5E-05
22994 45 T/I 121 rs183056142 0.1683 None gnomAD-3.1.2 1.25447E-04
22994 45 T/I 121 rs183056142 0.1683 None 1000 genomes 1.99681E-04
22994 45 T/I 121 rs183056142 0.1683 None gnomAD-4.0.0 2.73443E-04
22995 46 Q/P 122 rs879410317 0.5522 None gnomAD-2.1.1 4.02E-06
22995 46 Q/P 122 rs879410317 0.5522 None gnomAD-3.1.2 1.32E-05
22995 46 Q/P 122 rs879410317 0.5522 None gnomAD-4.0.0 4.96031E-06
22996 47 I/T 123 rs971749433 0.2952 None gnomAD-2.1.1 8.05E-06
22996 47 I/T 123 rs971749433 0.2952 None gnomAD-4.0.0 3.18416E-06
22996 47 I/V 123 None 0.2952 None gnomAD-4.0.0 4.79049E-06
22997 48 T/A 125 None 0.6865 None gnomAD-4.0.0 1.20032E-06
22997 48 T/N 125 rs886043272 0.6865 None gnomAD-4.0.0 1.36872E-06
22999 50 T/I 130 rs755306597 0.4286 None gnomAD-2.1.1 1.21E-05
22999 50 T/I 130 rs755306597 0.4286 None gnomAD-4.0.0 1.57403E-05
23000 51 P/A 131 None 0.5633 None gnomAD-4.0.0 6.84358E-07
23000 51 P/T 131 None 0.5633 None gnomAD-4.0.0 1.36872E-06
23001 52 T/I 134 rs1215862556 0.3489 None gnomAD-2.1.1 4.02E-06
23001 52 T/I 134 rs1215862556 0.3489 None gnomAD-4.0.0 2.7374E-06
23002 53 S/F 135 rs1469065762 0.1996 None gnomAD-2.1.1 8.05E-06
23002 53 S/F 135 rs1469065762 0.1996 None gnomAD-4.0.0 3.42178E-06
23002 53 S/Y 135 None 0.1996 None gnomAD-4.0.0 2.05307E-06
23004 55 M/R 137 None 0.3356 None gnomAD-4.0.0 1.59207E-06
23004 55 M/V 137 rs1257560836 0.3356 None gnomAD-2.1.1 4.02E-06
23004 55 M/V 137 rs1257560836 0.3356 None gnomAD-4.0.0 1.36872E-06
23005 56 L/V 138 rs1196794512 0.0895 None gnomAD-2.1.1 8.05E-06
23005 56 L/V 138 rs1196794512 0.0895 None gnomAD-4.0.0 1.5921E-06
23006 57 T/A 139 rs763118646 0.2243 None gnomAD-2.1.1 4.02E-06
23006 57 T/A 139 rs763118646 0.2243 None gnomAD-4.0.0 1.59209E-06
23006 57 T/I 139 rs1559470479 0.2243 None gnomAD-2.1.1 4.02E-06
23006 57 T/I 139 rs1559470479 0.2243 None gnomAD-4.0.0 1.59211E-06
23007 58 I/T 140 rs1366649624 0.1407 None gnomAD-2.1.1 4.02E-06
23007 58 I/T 140 rs1366649624 0.1407 None gnomAD-4.0.0 1.5921E-06
23007 58 I/V 140 rs750858964 0.1407 None gnomAD-2.1.1 8.05E-06
23007 58 I/V 140 rs750858964 0.1407 None gnomAD-4.0.0 3.18417E-06
23008 59 K/N 141 rs2046652524 0.3793 None gnomAD-3.1.2 6.6E-06
23008 59 K/N 141 rs2046652524 0.3793 None gnomAD-4.0.0 1.36874E-06
23008 59 K/T 141 rs765816052 0.3793 None gnomAD-2.1.1 4.02E-06
23008 59 K/T 141 rs765816052 0.3793 None gnomAD-4.0.0 1.59211E-06
23010 61 A/T 144 None 0.1109 None gnomAD-4.0.0 1.59216E-06
23010 61 A/V 144 rs1575830557 0.1109 None gnomAD-4.0.0 1.20033E-06
23012 63 R/K 146 None 0.8751 None gnomAD-4.0.0 2.40064E-06
23014 65 D/G 149 rs1394733017 0.2310 None gnomAD-2.1.1 4.03E-06
23014 65 D/G 149 rs1394733017 0.2310 None gnomAD-4.0.0 1.59224E-06
23015 66 A/P 151 rs1416377694 0.2142 None gnomAD-4.0.0 4.10637E-06
23015 66 A/T 151 None 0.2142 None gnomAD-4.0.0 6.84395E-07
23015 66 A/V 151 rs771710562 0.2142 None gnomAD-2.1.1 4.29E-05
23015 66 A/V 151 rs771710562 0.2142 None gnomAD-3.1.2 3.3E-05
23015 66 A/V 151 rs771710562 0.2142 None gnomAD-4.0.0 3.65904E-05
23016 67 G/C 152 rs774004059 0.2632 None gnomAD-4.0.0 2.7376E-06
23016 67 G/S 152 rs774004059 0.2632 None gnomAD-2.1.1 4.03E-06
23016 67 G/S 152 rs774004059 0.2632 None gnomAD-3.1.2 6.6E-06
23016 67 G/S 152 rs774004059 0.2632 None gnomAD-4.0.0 6.60049E-06
23017 68 E/A 153 rs1393720998 0.5179 None gnomAD-2.1.1 1.79E-05
23017 68 E/A 153 rs1393720998 0.5179 None gnomAD-3.1.2 1.98E-05
23017 68 E/A 153 rs1393720998 0.5179 None gnomAD-4.0.0 5.57988E-06
23017 68 E/K 153 rs1433111553 0.5179 None gnomAD-2.1.1 4.03E-06
23017 68 E/K 153 rs1433111553 0.5179 None gnomAD-4.0.0 1.59233E-06
23018 69 Y/C 154 rs1237834164 0.1313 None gnomAD-2.1.1 4.03E-06
23018 69 Y/C 154 rs1237834164 0.1313 None gnomAD-4.0.0 1.36882E-06
23018 69 Y/H 154 rs748860763 0.1313 None gnomAD-2.1.1 1.21E-05
23018 69 Y/H 154 rs748860763 0.1313 None gnomAD-4.0.0 7.52854E-06
23019 70 T/I 155 None 0.1803 None gnomAD-4.0.0 3.1848E-06
23020 71 I/L 156 None 0.0832 None gnomAD-4.0.0 1.59241E-06
23020 71 I/N 156 None 0.0832 None gnomAD-4.0.0 1.36884E-06
23020 71 I/S 156 None 0.0832 None gnomAD-4.0.0 6.84419E-07
23021 72 T/I 157 rs1559469943 0.2816 None gnomAD-2.1.1 4.03E-06
23021 72 T/I 157 rs1559469943 0.2816 None gnomAD-4.0.0 6.8443E-07
23021 72 T/P 157 None 0.2816 None gnomAD-4.0.0 1.59245E-06
23022 73 A/D 158 None 0.0984 None gnomAD-4.0.0 6.84439E-07
23022 73 A/S 158 rs769814983 0.0984 None gnomAD-2.1.1 8.06E-06
23022 73 A/S 158 rs769814983 0.0984 None gnomAD-3.1.2 1.32E-05
23022 73 A/S 158 rs769814983 0.0984 None gnomAD-4.0.0 5.13078E-06
23022 73 A/V 158 None 0.0984 None gnomAD-4.0.0 2.05332E-06
23024 75 N/S 161 rs1205211838 0.1078 None gnomAD-2.1.1 4.03E-06
23024 75 N/S 161 rs1205211838 0.1078 None gnomAD-4.0.0 3.18511E-06
23025 76 P/A 162 None 0.5053 None gnomAD-4.0.0 6.84462E-07
23025 76 P/L 162 None 0.5053 None gnomAD-4.0.0 1.59262E-06
23025 76 P/S 162 None 0.5053 None gnomAD-4.0.0 6.84462E-07
23026 77 F/L 163 None 0.4127 None gnomAD-4.0.0 1.36896E-06
23026 77 F/S 163 rs375365023 0.4127 None gnomAD-2.1.1 1.21E-05
23026 77 F/S 163 rs375365023 0.4127 None gnomAD-3.1.2 1.98E-05
23026 77 F/S 163 rs375365023 0.4127 None gnomAD-4.0.0 9.92121E-06
23027 78 G/D 164 rs780975029 0.2291 None gnomAD-4.0.0 2.40064E-06
23028 79 T/M 165 rs754823057 0.4431 None gnomAD-2.1.1 2.15E-05
23028 79 T/M 165 rs754823057 0.4431 None gnomAD-3.1.2 1.98E-05
23028 79 T/M 165 rs754823057 0.4431 None gnomAD-4.0.0 9.30193E-06
23030 81 V/L 168 rs1389259455 0.2896 None gnomAD-4.0.0 1.59271E-06
23030 81 V/M 168 rs1389259455 0.2896 None gnomAD-2.1.1 4.03E-06
23030 81 V/M 168 rs1389259455 0.2896 None gnomAD-4.0.0 1.59271E-06
23032 83 H/D 171 None 0.5407 None gnomAD-4.0.0 1.59271E-06
23032 83 H/L 171 rs886055251 0.5407 None gnomAD-4.0.0 1.5927E-06
23032 83 H/Q 171 rs1374973500 0.5407 None gnomAD-2.1.1 4.03E-06
23032 83 H/Q 171 rs1374973500 0.5407 None gnomAD-4.0.0 6.84475E-07
23034 85 K/Q 173 rs1347501041 0.7532 None gnomAD-3.1.2 6.58E-06
23034 85 K/Q 173 rs1347501041 0.7532 None gnomAD-4.0.0 6.58337E-06
23035 86 V/E 174 rs1466022888 0.1166 None gnomAD-2.1.1 8.07E-06
23035 86 V/E 174 rs1466022888 0.1166 None gnomAD-4.0.0 3.18537E-06
23035 86 V/I 174 rs200878877 0.1166 None gnomAD-2.1.1 8.96E-05
23035 86 V/I 174 rs200878877 0.1166 None gnomAD-3.1.2 7.25E-05
23035 86 V/I 174 rs200878877 0.1166 None gnomAD-4.0.0 8.18471E-05
23035 86 V/L 174 rs200878877 0.1166 None gnomAD-2.1.1 2.42E-05
23035 86 V/L 174 rs200878877 0.1166 None gnomAD-3.1.2 6.59E-06
23035 86 V/L 174 rs200878877 0.1166 None gnomAD-4.0.0 4.34037E-06
23036 87 T/A 175 None 0.4025 None gnomAD-4.0.0 3.18532E-06
23036 87 T/I 175 rs1056452429 0.4025 None gnomAD-2.1.1 4.04E-06
23036 87 T/I 175 rs1056452429 0.4025 None gnomAD-4.0.0 1.36897E-06
23037 88 V/A 177 rs1252508608 0.1910 None gnomAD-3.1.2 1.32E-05
23037 88 V/A 177 rs1252508608 0.1910 None gnomAD-4.0.0 3.84774E-06
23037 88 V/D 177 rs1252508608 0.1910 None gnomAD-4.0.0 4.77812E-06
23037 88 V/I 177 rs1206637127 0.1910 None gnomAD-4.0.0 6.00161E-06