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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32105 1 T/I 1 rs768124637 0.4358 None gnomAD-4.0.0 2.10096E-06
32105 1 T/S 1 rs768124637 0.4358 None gnomAD-3.1.2 6.57E-06
32105 1 T/S 1 rs768124637 0.4358 None gnomAD-4.0.0 1.26578E-06
32107 3 G/D 3 rs747019187 0.2123 None gnomAD-2.1.1 4.46E-06
32107 3 G/D 3 rs747019187 0.2123 None gnomAD-4.0.0 3.34819E-06
32107 3 G/R 3 None 0.2123 None gnomAD-4.0.0 1.67312E-06
32108 4 P/L 4 None 0.4086 None gnomAD-4.0.0 1.3971E-06
32108 4 P/R 4 None 0.4086 None gnomAD-4.0.0 6.98552E-07
32108 4 P/S 4 rs779955397 0.4086 None gnomAD-2.1.1 4.39E-06
32108 4 P/S 4 rs779955397 0.4086 None gnomAD-4.0.0 6.97935E-07
32113 9 K/N 11 rs1224317674 0.5976 None gnomAD-2.1.1 4.2E-06
32113 9 K/N 11 rs1224317674 0.5976 None gnomAD-4.0.0 1.62871E-06
32113 9 K/T 11 rs1377494437 0.5976 None gnomAD-2.1.1 3.19E-05
32113 9 K/T 11 rs1377494437 0.5976 None gnomAD-3.1.2 6.57E-06
32113 9 K/T 11 rs1377494437 0.5976 None gnomAD-4.0.0 6.57125E-06
32114 10 V/L 12 None 0.3742 None gnomAD-4.0.0 1.38198E-06
32115 11 K/M 13 None 0.5938 None gnomAD-4.0.0 1.62657E-06
32116 12 E/G 14 None 0.5645 None gnomAD-4.0.0 6.90551E-07
32119 15 R/K 17 rs183151656 0.6802 None gnomAD-2.1.1 8.34E-06
32119 15 R/K 17 rs183151656 0.6802 None gnomAD-3.1.2 6.57E-06
32119 15 R/K 17 rs183151656 0.6802 None 1000 genomes 1.99681E-04
32119 15 R/K 17 rs183151656 0.6802 None gnomAD-4.0.0 1.24789E-06
32121 17 S/C 19 rs1258025777 0.1364 None gnomAD-2.1.1 4.16E-06
32121 17 S/C 19 rs1258025777 0.1364 None gnomAD-4.0.0 1.61639E-06
32121 17 S/F 19 None 0.1364 None gnomAD-4.0.0 1.61639E-06
32122 18 V/A 20 None 0.0996 None gnomAD-4.0.0 1.20033E-06
32122 18 V/L 20 None 0.0996 None gnomAD-4.0.0 7.57461E-06
32122 18 V/M 20 rs745586010 0.0996 None gnomAD-2.1.1 3.74E-05
32122 18 V/M 20 rs745586010 0.0996 None gnomAD-4.0.0 1.23948E-05
32124 20 I/L 22 None 0.0935 None gnomAD-4.0.0 1.61278E-06
32124 20 I/T 22 rs779223056 0.0935 None gnomAD-2.1.1 3.31E-05
32124 20 I/T 22 rs779223056 0.0935 None gnomAD-4.0.0 8.25783E-06
32125 21 T/P 23 rs1295778602 0.2664 None gnomAD-2.1.1 4.13E-06
32125 21 T/P 23 rs1295778602 0.2664 None gnomAD-4.0.0 1.61175E-06
32126 22 W/C 24 rs794729542 0.1181 None gnomAD-4.0.0 6.8766E-07
32127 23 E/A 25 None 0.5602 None gnomAD-4.0.0 2.7501E-06
32127 23 E/Q 25 None 0.5602 None gnomAD-4.0.0 1.60953E-06
32127 23 E/V 25 None 0.5602 None gnomAD-4.0.0 6.87524E-07
32128 24 I/T 26 None 0.6886 None gnomAD-4.0.0 1.60769E-06
32130 26 T/K 28 None 0.8255 None gnomAD-2.1.1 4.11E-06
32130 26 T/K 28 None 0.8255 None gnomAD-4.0.0 1.37385E-06
32130 26 T/M 28 rs368998895 0.8255 None gnomAD-2.1.1 1.82E-05
32130 26 T/M 28 rs368998895 0.8255 None gnomAD-3.1.2 4.6E-05
32130 26 T/M 28 rs368998895 0.8255 None gnomAD-4.0.0 7.46315E-06
32130 26 T/R 28 rs368998895 0.8255 None gnomAD-2.1.1 4.11E-06
32130 26 T/R 28 rs368998895 0.8255 None gnomAD-4.0.0 1.37385E-06
32131 27 I/T 29 rs978818932 0.7452 None gnomAD-4.0.0 2.74698E-06
32131 27 I/V 29 rs567606606 0.7452 None gnomAD-2.1.1 4.1E-06
32131 27 I/V 29 rs567606606 0.7452 None gnomAD-3.1.2 6.57E-06
32131 27 I/V 29 rs567606606 0.7452 None 1000 genomes 1.99681E-04
32131 27 I/V 29 rs567606606 0.7452 None gnomAD-4.0.0 2.57988E-06
32132 28 D/Y 30 None 0.3070 None gnomAD-4.0.0 1.60406E-06
32133 29 G/D 31 rs1454628830 0.2566 None gnomAD-3.1.2 6.57E-06
32133 29 G/D 31 rs1454628830 0.2566 None gnomAD-4.0.0 6.57099E-06
32134 30 G/R 32 None 0.5492 None gnomAD-4.0.0 1.60204E-06
32135 31 A/D 33 rs1363575926 0.1505 None gnomAD-3.1.2 6.57E-06
32135 31 A/D 33 rs1363575926 0.1505 None gnomAD-4.0.0 6.57186E-06
32136 32 P/A 34 None 0.6321 None gnomAD-4.0.0 1.37151E-06
32136 32 P/S 34 rs1553518099 0.6321 None gnomAD-4.0.0 5.48604E-06
32137 33 V/A 35 None 0.2013 None gnomAD-4.0.0 1.20033E-06
32137 33 V/I 35 rs2857279 0.2013 None gnomAD-3.1.2 6.57E-06
32137 33 V/I 35 rs2857279 0.2013 None gnomAD-4.0.0 6.57013E-06
32138 34 N/I 36 None 0.5187 None gnomAD-4.0.0 3.19598E-06
32138 34 N/K 36 rs933403975 0.5187 None gnomAD-4.0.0 4.11286E-06
32139 35 N/S 37 rs878960097 0.3500 None gnomAD-2.1.1 8.11E-06
32139 35 N/S 37 rs878960097 0.3500 None gnomAD-3.1.2 2.63E-05
32139 35 N/S 37 rs878960097 0.3500 None gnomAD-4.0.0 4.09582E-05
32141 37 I/L 39 None 0.1676 None gnomAD-4.0.0 6.85147E-07
32141 37 I/N 39 rs753559586 0.1676 None gnomAD-3.1.2 6.57E-06
32141 37 I/N 39 rs753559586 0.1676 None gnomAD-4.0.0 4.05964E-06
32141 37 I/V 39 rs794729249 0.1676 None gnomAD-4.0.0 8.90692E-06
32142 38 V/A 40 rs1695611620 0.0901 None gnomAD-3.1.2 6.57E-06
32142 38 V/A 40 rs1695611620 0.0901 None gnomAD-4.0.0 1.8609E-06
32142 38 V/I 40 rs779663332 0.0901 None gnomAD-2.1.1 8.1E-05
32142 38 V/I 40 rs779663332 0.0901 None gnomAD-3.1.2 5.26E-05
32142 38 V/I 40 rs779663332 0.0901 None gnomAD-4.0.0 9.05727E-05
32142 38 V/L 40 None 0.0901 None gnomAD-4.0.0 6.85027E-07
32143 39 E/G 41 rs904892183 0.1139 None gnomAD-2.1.1 4.05E-06
32143 39 E/G 41 rs904892183 0.1139 None gnomAD-3.1.2 1.31E-05
32143 39 E/G 41 rs904892183 0.1139 None gnomAD-4.0.0 1.41169E-05
32143 39 E/K 41 rs1002264891 0.1139 None gnomAD-3.1.2 6.57E-06
32143 39 E/K 41 rs1002264891 0.1139 None gnomAD-4.0.0 1.86078E-06
32144 40 K/N 42 rs768078237 0.2525 None gnomAD-2.1.1 4.85E-05
32144 40 K/N 42 rs768078237 0.2525 None gnomAD-3.1.2 1.97E-05
32144 40 K/N 42 rs768078237 0.2525 None gnomAD-4.0.0 2.85266E-05
32145 41 R/C 43 rs878907981 0.1156 None gnomAD-2.1.1 3.19E-05
32145 41 R/C 43 rs878907981 0.1156 None gnomAD-3.1.2 1.97E-05
32145 41 R/C 43 rs878907981 0.1156 None gnomAD-4.0.0 5.58189E-06
32145 41 R/H 43 rs759948951 0.1156 None gnomAD-2.1.1 1.62E-05
32145 41 R/H 43 rs759948951 0.1156 None gnomAD-3.1.2 2.63E-05
32145 41 R/H 43 rs759948951 0.1156 None gnomAD-4.0.0 1.30229E-05
32146 42 E/V 44 rs1455005015 0.3308 None gnomAD-2.1.1 4.04E-06
32146 42 E/V 44 rs1455005015 0.3308 None gnomAD-4.0.0 1.59367E-06
32147 43 A/V 50 rs774531768 0.2412 None gnomAD-2.1.1 4.04E-06
32147 43 A/V 50 rs774531768 0.2412 None gnomAD-4.0.0 4.7805E-06
32148 44 A/T 54 rs1177332829 0.7094 None gnomAD-2.1.1 4.04E-06
32148 44 A/T 54 rs1177332829 0.7094 None gnomAD-4.0.0 1.36908E-06
32148 44 A/V 54 None 0.7094 None gnomAD-4.0.0 1.20032E-06
32149 45 M/I 60 rs886042242 0.4749 None gnomAD-2.1.1 4.04E-06
32149 45 M/I 60 rs886042242 0.4749 None gnomAD-4.0.0 1.59257E-06
32149 45 M/R 60 rs766743444 0.4749 None gnomAD-3.1.2 6.57E-06
32149 45 M/R 60 rs766743444 0.4749 None gnomAD-4.0.0 4.96064E-06
32149 45 M/T 60 rs766743444 0.4749 None gnomAD-2.1.1 4.04E-06
32149 45 M/T 60 rs766743444 0.4749 None gnomAD-4.0.0 2.0538E-06
32149 45 M/V 60 rs972033083 0.4749 None gnomAD-2.1.1 4.04E-06
32149 45 M/V 60 rs972033083 0.4749 None gnomAD-4.0.0 4.77794E-06
32150 46 R/T 63 None 1.0031 None gnomAD-4.0.0 1.20032E-06
32152 48 F/L 65 None 0.1966 None gnomAD-4.0.0 1.20032E-06
32152 48 F/V 65 None 0.1966 None gnomAD-4.0.0 1.59214E-06
32153 49 K/Q 66 rs761414958 0.7270 None gnomAD-2.1.1 4.03E-06
32153 49 K/Q 66 rs761414958 0.7270 None gnomAD-3.1.2 1.31E-05
32153 49 K/Q 66 rs761414958 0.7270 None gnomAD-4.0.0 6.19788E-06
32153 49 K/T 66 None 0.7270 None gnomAD-3.1.2 6.57E-06
32153 49 K/T 66 None 0.7270 None gnomAD-4.0.0 6.5697E-06
32155 51 V/A 68 rs1442205432 0.2404 None gnomAD-3.1.2 6.57E-06
32155 51 V/A 68 rs1442205432 0.2404 None gnomAD-4.0.0 6.57212E-06
32155 51 V/I 68 None 0.2404 None gnomAD-4.0.0 1.20032E-06
32156 52 T/I 69 rs1234684569 0.1573 None gnomAD-2.1.1 4.03E-06
32156 52 T/I 69 rs1234684569 0.1573 None gnomAD-4.0.0 1.59179E-06
32156 52 T/S 69 None 0.1573 None gnomAD-4.0.0 1.59179E-06
32159 55 C/R 77 rs1375895455 0.1119 None gnomAD-2.1.1 4.03E-06
32159 55 C/R 77 rs1375895455 0.1119 None gnomAD-3.1.2 1.97E-05
32159 55 C/R 77 rs1375895455 0.1119 None gnomAD-4.0.0 7.68785E-06
32161 57 K/T 88 None 0.7852 None gnomAD-4.0.0 1.20032E-06
32163 59 L/F 90 rs1448896859 0.4440 None gnomAD-2.1.1 4.03E-06
32163 59 L/F 90 rs1448896859 0.4440 None gnomAD-4.0.0 1.59147E-06
32164 60 Y/H 91 rs1374040247 0.2932 None gnomAD-2.1.1 4.03E-06
32164 60 Y/H 91 rs1374040247 0.2932 None gnomAD-4.0.0 3.18287E-06
32165 61 R/G 92 rs768216478 0.5716 None gnomAD-2.1.1 8.06E-06
32165 61 R/G 92 rs768216478 0.5716 None gnomAD-4.0.0 4.10541E-06
32165 61 R/T 92 None 0.5716 None gnomAD-4.0.0 1.20032E-06
32166 62 I/V 93 rs746467659 0.1033 None gnomAD-2.1.1 2.15E-05
32166 62 I/V 93 rs746467659 0.1033 None gnomAD-3.1.2 6.57E-06
32166 62 I/V 93 rs746467659 0.1033 None gnomAD-4.0.0 2.5622E-06
32167 63 S/F 94 rs189733990 0.5970 None gnomAD-2.1.1 4.03E-06
32167 63 S/F 94 rs189733990 0.5970 None gnomAD-3.1.2 6.57E-06
32167 63 S/F 94 rs189733990 0.5970 None 1000 genomes 1.99681E-04
32167 63 S/F 94 rs189733990 0.5970 None gnomAD-4.0.0 2.56182E-06
32168 64 G/E 96 rs745694652 0.4826 None gnomAD-2.1.1 1.21E-05
32168 64 G/E 96 rs745694652 0.4826 None gnomAD-4.0.0 4.10544E-06
32168 64 G/R 96 rs1381527063 0.4826 None gnomAD-2.1.1 3.19E-05
32168 64 G/R 96 rs1381527063 0.4826 None gnomAD-3.1.2 1.31E-05
32168 64 G/R 96 rs1381527063 0.4826 None gnomAD-4.0.0 1.31442E-05
32169 65 L/F 97 None 0.1232 None gnomAD-4.0.0 1.20032E-06
32170 66 V/A 98 rs1157303589 0.5208 None gnomAD-2.1.1 4.03E-06
32170 66 V/A 98 rs1157303589 0.5208 None gnomAD-3.1.2 6.57E-06
32170 66 V/A 98 rs1157303589 0.5208 None gnomAD-4.0.0 6.40539E-06
32170 66 V/I 98 None 0.5208 None gnomAD-4.0.0 6.8425E-07
32170 66 V/L 98 rs1380085253 0.5208 None gnomAD-2.1.1 4.03E-06
32170 66 V/L 98 rs1380085253 0.5208 None gnomAD-4.0.0 1.3685E-06
32171 67 E/K 99 rs778618339 0.5174 None gnomAD-2.1.1 4.03E-06
32171 67 E/K 99 rs778618339 0.5174 None gnomAD-4.0.0 1.59141E-06
32173 69 T/I 102 rs770726467 0.2019 None gnomAD-2.1.1 8.05E-06
32173 69 T/I 102 rs770726467 0.2019 None gnomAD-4.0.0 3.42111E-06
32174 70 M/T 103 rs749585164 0.3616 None gnomAD-2.1.1 2.01E-05
32174 70 M/T 103 rs749585164 0.3616 None gnomAD-3.1.2 6.57E-06
32174 70 M/T 103 rs749585164 0.3616 None gnomAD-4.0.0 2.47872E-05
32176 72 Y/N 105 rs377291343 0.2344 None gnomAD-2.1.1 1.43E-05
32176 72 Y/N 105 rs377291343 0.2344 None gnomAD-3.1.2 5.91E-05
32176 72 Y/N 105 rs377291343 0.2344 None gnomAD-4.0.0 8.05597E-06
32177 73 F/L 106 rs1283604141 0.1162 None gnomAD-2.1.1 4.03E-06
32177 73 F/L 106 rs1283604141 0.1162 None gnomAD-4.0.0 6.84229E-07
32178 74 R/S 107 None 0.1840 None gnomAD-4.0.0 1.59139E-06
32179 75 V/M 108 rs727505082 0.0851 None gnomAD-2.1.1 8.05E-06
32179 75 V/M 108 rs727505082 0.0851 None gnomAD-4.0.0 1.02636E-05
32181 77 P/S 110 rs1695557905 0.1043 None gnomAD-4.0.0 1.59143E-06
32182 78 E/G 111 rs1311963909 0.3260 None gnomAD-2.1.1 4.02E-06
32182 78 E/G 111 rs1311963909 0.3260 None gnomAD-4.0.0 5.47381E-06
32182 78 E/K 111 None 0.3260 None gnomAD-4.0.0 2.05275E-06
32183 79 N/S 112 None 0.1009 None gnomAD-4.0.0 2.40071E-06
32184 80 I/T 113 rs952755219 0.5176 None gnomAD-3.1.2 1.31E-05
32184 80 I/T 113 rs952755219 0.5176 None gnomAD-4.0.0 6.40505E-06
32185 81 Y/H 114 rs1231801510 0.6640 None gnomAD-2.1.1 3.19E-05
32187 83 I/N 117 rs1377093791 0.5280 None gnomAD-2.1.1 4.02E-06
32187 83 I/N 117 rs1377093791 0.5280 None gnomAD-4.0.0 1.59123E-06
32187 83 I/T 117 rs1377093791 0.5280 None gnomAD-2.1.1 1.21E-05
32187 83 I/T 117 rs1377093791 0.5280 None gnomAD-4.0.0 4.7737E-06
32189 85 E/V 119 rs1002475776 0.6104 None gnomAD-3.1.2 6.57E-06
32189 85 E/V 119 rs1002475776 0.6104 None gnomAD-4.0.0 8.05583E-06
32190 86 P/A 120 rs1314931381 0.4305 None gnomAD-2.1.1 4.02E-06
32190 86 P/A 120 rs1314931381 0.4305 None gnomAD-4.0.0 1.59126E-06
32191 87 C/R 121 None 0.1598 None gnomAD-4.0.0 2.05262E-06
32192 88 E/A 122 None 0.2429 None gnomAD-4.0.0 1.5912E-06
32192 88 E/K 122 rs1286172719 0.2429 None gnomAD-3.1.2 6.57E-06
32192 88 E/K 122 rs1286172719 0.2429 None gnomAD-4.0.0 6.57056E-06
32193 89 T/I 123 None 0.1690 None gnomAD-4.0.0 2.40064E-06
32194 90 S/T 124 rs781737970 0.6690 None gnomAD-2.1.1 8.04E-06
32194 90 S/T 124 rs781737970 0.6690 None gnomAD-4.0.0 3.18233E-06
32196 92 A/P 126 None 0.1883 None gnomAD-4.0.0 3.42095E-06
32197 93 V/I 127 None 0.2037 None gnomAD-4.0.0 6.84189E-07
32197 93 V/L 127 rs1296702975 0.2037 None gnomAD-2.1.1 8.04E-06
32197 93 V/L 127 rs1296702975 0.2037 None gnomAD-4.0.0 4.10514E-06
32198 94 L/M 129 None 0.4540 None gnomAD-4.0.0 6.84187E-07
32198 94 L/V 129 rs752075170 0.4540 None gnomAD-2.1.1 4.02E-06
32198 94 L/V 129 rs752075170 0.4540 None gnomAD-3.1.2 1.31E-05
32198 94 L/V 129 rs752075170 0.4540 None gnomAD-4.0.0 3.71776E-06
32199 95 V/F 130 None 0.0889 None gnomAD-4.0.0 6.84192E-07
32199 95 V/G 130 rs1364825678 0.0889 None gnomAD-2.1.1 4.02E-06
32199 95 V/G 130 rs1364825678 0.0889 None gnomAD-4.0.0 1.36838E-06
32199 95 V/I 130 None 0.0889 None gnomAD-4.0.0 6.84192E-07
32200 96 S/L 131 None 0.4125 None gnomAD-4.0.0 4.10515E-06