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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19095 1 D/E 1 None 0.2339 None gnomAD-4.0.0 6.84479E-07
19095 1 D/V 1 None 0.2339 None gnomAD-4.0.0 1.20032E-06
19096 2 A/V 2 rs1559650624 0.5823 None gnomAD-2.1.1 8.07E-06
19096 2 A/V 2 rs1559650624 0.5823 None gnomAD-4.0.0 3.1855E-06
19098 4 V/A 4 rs766691172 0.1450 None gnomAD-2.1.1 4.03E-06
19098 4 V/A 4 rs766691172 0.1450 None gnomAD-4.0.0 3.18522E-06
19098 4 V/I 4 rs727503592 0.1450 None gnomAD-2.1.1 1.61E-05
19098 4 V/I 4 rs727503592 0.1450 None gnomAD-4.0.0 8.89795E-06
19099 5 R/G 8 None 0.6430 None gnomAD-4.0.0 1.20032E-06
19100 6 D/E 9 rs876658069 0.7778 None gnomAD-2.1.1 7.16E-06
19100 6 D/E 9 rs876658069 0.7778 None gnomAD-3.1.2 6.57E-06
19100 6 D/E 9 rs876658069 0.7778 None gnomAD-4.0.0 1.73574E-05
19100 6 D/N 9 rs2154189970 0.7778 None gnomAD-3.1.2 6.58E-06
19100 6 D/N 9 rs2154189970 0.7778 None gnomAD-4.0.0 5.47564E-06
19101 7 R/G 11 rs763313986 0.4653 None gnomAD-2.1.1 4.03E-06
19101 7 R/G 11 rs763313986 0.4653 None gnomAD-4.0.0 1.59258E-06
19101 7 R/S 11 None 0.4653 None gnomAD-4.0.0 1.59256E-06
19102 8 I/T 13 rs878854319 0.2289 None gnomAD-4.0.0 1.59256E-06
19103 9 V/A 14 None 0.4582 None gnomAD-4.0.0 4.80129E-06
19103 9 V/I 14 None 0.4582 None gnomAD-4.0.0 4.10669E-06
19104 10 V/A 16 rs776210519 0.1825 None gnomAD-2.1.1 6.38E-05
19104 10 V/A 16 rs776210519 0.1825 None gnomAD-3.1.2 2.63E-05
19104 10 V/A 16 rs776210519 0.1825 None gnomAD-4.0.0 6.41024E-06
19104 10 V/D 16 rs776210519 0.1825 None gnomAD-2.1.1 4.03E-06
19104 10 V/D 16 rs776210519 0.1825 None gnomAD-4.0.0 1.59257E-06
19105 11 H/L 18 rs1450682516 0.8038 None gnomAD-3.1.2 6.58E-06
19105 11 H/L 18 rs1450682516 0.8038 None gnomAD-4.0.0 5.57924E-06
19105 11 H/R 18 None 0.8038 None gnomAD-4.0.0 1.36889E-06
19105 11 H/Y 18 rs2052113416 0.8038 None gnomAD-4.0.0 3.18518E-06
19106 12 A/T 23 rs754573037 0.4141 None gnomAD-2.1.1 1.61E-05
19106 12 A/T 23 rs754573037 0.4141 None gnomAD-4.0.0 1.27402E-05
19107 13 G/E 24 None 0.3421 None gnomAD-4.0.0 1.59254E-06
19108 14 G/E 25 rs774910035 0.2127 None gnomAD-2.1.1 4.03E-06
19108 14 G/E 25 rs774910035 0.2127 None gnomAD-4.0.0 2.53246E-05
19109 15 V/A 26 None 0.4130 None gnomAD-4.0.0 1.59251E-06
19109 15 V/M 26 rs945083650 0.4130 None gnomAD-4.0.0 9.5822E-06
19111 17 R/P 29 rs375808207 0.3924 None gnomAD-2.1.1 4.03E-06
19111 17 R/P 29 rs375808207 0.3924 None gnomAD-4.0.0 6.84436E-07
19111 17 R/Q 29 rs375808207 0.3924 None gnomAD-2.1.1 1.07E-05
19111 17 R/Q 29 rs375808207 0.3924 None gnomAD-3.1.2 2.63E-05
19111 17 R/Q 29 rs375808207 0.3924 None gnomAD-4.0.0 1.05391E-05
19112 18 I/T 30 None 0.1020 None gnomAD-4.0.0 2.40065E-06
19113 19 I/T 31 None 0.2969 None gnomAD-4.0.0 1.59239E-06
19113 19 I/V 31 rs2052104416 0.2969 None gnomAD-3.1.2 6.58E-06
19113 19 I/V 31 rs2052104416 0.2969 None gnomAD-4.0.0 2.56395E-06
19114 20 A/T 33 rs2052103828 0.0912 None gnomAD-4.0.0 2.40065E-06
19115 21 Y/C 34 rs1479994671 0.4579 None gnomAD-2.1.1 4.03E-06
19115 21 Y/C 34 rs1479994671 0.4579 None gnomAD-4.0.0 6.36951E-06
19115 21 Y/H 34 None 0.4579 None gnomAD-4.0.0 3.42207E-06
19116 22 V/M 35 rs2052100792 0.1994 None gnomAD-3.1.2 6.58E-06
19116 22 V/M 35 rs2052100792 0.1994 None gnomAD-4.0.0 6.57765E-06
19118 24 G/R 40 rs1201313907 0.1850 None gnomAD-2.1.1 4.03E-06
19118 24 G/R 40 rs1201313907 0.1850 None gnomAD-4.0.0 1.59238E-06
19119 25 K/M 41 rs1576219870 0.4676 None gnomAD-4.0.0 1.59232E-06
19120 26 P/L 42 rs936369232 0.3631 None gnomAD-2.1.1 4.03E-06
19120 26 P/L 42 rs936369232 0.3631 None gnomAD-4.0.0 1.3688E-06
19120 26 P/R 42 None 0.3631 None gnomAD-4.0.0 4.10639E-06
19121 27 P/L 43 rs779397487 0.6920 None gnomAD-3.1.2 6.58E-06
19121 27 P/L 43 rs779397487 0.6920 None gnomAD-4.0.0 6.57739E-06
19123 29 T/A 45 rs587782985 0.6448 None gnomAD-2.1.1 3.63E-05
19123 29 T/A 45 rs587782985 0.6448 None gnomAD-3.1.2 1.32E-05
19123 29 T/A 45 rs587782985 0.6448 None gnomAD-4.0.0 1.92162E-05
19123 29 T/I 45 None 0.6448 None gnomAD-4.0.0 1.20032E-06
19124 30 V/A 46 None 0.3105 None gnomAD-4.0.0 1.20032E-06
19124 30 V/I 46 rs142841000 0.3105 None gnomAD-2.1.1 1.71905E-04
19124 30 V/I 46 rs142841000 0.3105 None gnomAD-3.1.2 4.67222E-04
19124 30 V/I 46 rs142841000 0.3105 None 1000 genomes 1.99681E-04
19124 30 V/I 46 rs142841000 0.3105 None gnomAD-4.0.0 7.93434E-05
19126 32 W/G 48 rs201912036 0.1867 None gnomAD-2.1.1 8.07E-06
19126 32 W/G 48 rs201912036 0.1867 None gnomAD-4.0.0 2.05315E-06
19127 33 N/S 49 None 0.3692 None gnomAD-4.0.0 1.20032E-06
19128 34 M/L 50 rs138367112 0.1509 None gnomAD-3.1.2 6.58E-06
19128 34 M/L 50 rs138367112 0.1509 None gnomAD-4.0.0 1.85959E-06
19128 34 M/V 50 rs138367112 0.1509 None gnomAD-2.1.1 3.58E-05
19128 34 M/V 50 rs138367112 0.1509 None gnomAD-3.1.2 1.05201E-04
19128 34 M/V 50 rs138367112 0.1509 None 1000 genomes 3.99361E-04
19128 34 M/V 50 rs138367112 0.1509 None gnomAD-4.0.0 2.35531E-05
19129 35 N/K 51 rs375305621 0.4394 None gnomAD-2.1.1 1.61E-05
19129 35 N/K 51 rs375305621 0.4394 None gnomAD-3.1.2 1.32E-05
19129 35 N/K 51 rs375305621 0.4394 None gnomAD-4.0.0 1.17774E-05
19131 37 R/K 55 None 0.7492 None gnomAD-4.0.0 1.20032E-06
19132 38 T/A 56 None 0.8622 None gnomAD-4.0.0 1.59218E-06
19132 38 T/S 56 rs1245250461 0.8622 None gnomAD-4.0.0 2.05312E-06
19133 39 L/F 58 rs1576219060 0.2498 None gnomAD-4.0.0 3.18431E-06
19134 40 P/H 69 None 0.2320 None gnomAD-4.0.0 1.20032E-06
19134 40 P/S 69 rs1327049229 0.2320 None gnomAD-2.1.1 4.03E-06
19134 40 P/S 69 rs1327049229 0.2320 None gnomAD-4.0.0 3.18434E-06
19135 41 Q/E 70 None 0.9160 None gnomAD-4.0.0 1.59213E-06
19135 41 Q/L 70 None 0.9160 None gnomAD-4.0.0 1.36875E-06
19136 42 E/D 73 rs553505206 0.4021 None gnomAD-3.1.2 6.58E-06
19136 42 E/D 73 rs553505206 0.4021 None 1000 genomes 1.99681E-04
19136 42 E/D 73 rs553505206 0.4021 None gnomAD-4.0.0 3.8448E-06
19136 42 E/G 73 None 0.4021 None gnomAD-4.0.0 1.20032E-06
19139 45 I/L 123 rs397517629 0.2847 None gnomAD-3.1.2 6.58E-06
19139 45 I/L 123 rs397517629 0.2847 None gnomAD-4.0.0 6.57635E-06
19139 45 I/T 123 rs727503591 0.2847 None gnomAD-2.1.1 1.07E-05
19139 45 I/T 123 rs727503591 0.2847 None gnomAD-3.1.2 1.97E-05
19139 45 I/T 123 rs727503591 0.2847 None gnomAD-4.0.0 3.59531E-05
19139 45 I/V 123 None 0.2847 None gnomAD-4.0.0 3.60097E-06
19142 48 T/A 130 None 0.4404 None gnomAD-4.0.0 1.59268E-06
19142 48 T/I 130 rs1576218735 0.4404 None gnomAD-3.1.2 6.58E-06
19142 48 T/I 130 rs1576218735 0.4404 None gnomAD-4.0.0 2.03011E-06
19142 48 T/P 130 rs760195565 0.4404 None gnomAD-4.0.0 6.37075E-06
19143 49 A/P 131 None 0.7601 None gnomAD-4.0.0 1.59228E-06
19143 49 A/V 131 rs540167353 0.7601 None gnomAD-3.1.2 6.58E-06
19143 49 A/V 131 rs540167353 0.7601 None 1000 genomes 1.99681E-04
19143 49 A/V 131 rs540167353 0.7601 None gnomAD-4.0.0 6.57289E-06
19145 51 S/R 135 rs775238770 0.1505 None gnomAD-2.1.1 8.06E-06
19145 51 S/R 135 rs775238770 0.1505 None gnomAD-4.0.0 2.05323E-06
19145 51 S/T 135 rs2154189870 0.1505 None gnomAD-4.0.0 3.18474E-06
19146 52 S/L 136 rs1427077002 0.1460 None gnomAD-2.1.1 4.03E-06
19146 52 S/L 136 rs1427077002 0.1460 None gnomAD-4.0.0 4.7771E-06
19147 53 S/F 137 rs1178386765 0.1201 None gnomAD-4.0.0 6.8441E-07
19148 54 M/L 138 None 0.0635 None gnomAD-4.0.0 2.05325E-06
19148 54 M/T 138 rs751101760 0.0635 None gnomAD-4.0.0 2.40064E-06
19148 54 M/V 138 rs188185141 0.0635 None gnomAD-2.1.1 4.97484E-04
19148 54 M/V 138 rs188185141 0.0635 None gnomAD-3.1.2 3.94612E-04
19148 54 M/V 138 rs188185141 0.0635 None 1000 genomes 3.99361E-04
19148 54 M/V 138 rs188185141 0.0635 None gnomAD-4.0.0 6.66352E-04
19150 56 I/M 140 rs2052065992 0.0959 None gnomAD-3.1.2 6.58E-06
19150 56 I/M 140 rs2052065992 0.0959 None gnomAD-4.0.0 6.57739E-06
19150 56 I/T 140 rs1553659483 0.0959 None gnomAD-4.0.0 3.18484E-06
19151 57 K/N 141 rs1362897659 0.8367 None gnomAD-2.1.1 4.03E-06
19151 57 K/N 141 rs1362897659 0.8367 None gnomAD-4.0.0 1.59253E-06
19153 59 C/F 144 None 0.0745 None gnomAD-4.0.0 1.20033E-06
19155 61 R/K 146 rs72646833 0.7436 None gnomAD-2.1.1 2.04058E-03
19155 61 R/K 146 rs72646833 0.7436 None gnomAD-3.1.2 6.33353E-03
19155 61 R/K 146 rs72646833 0.7436 None 1000 genomes 5.39137E-03
19155 61 R/K 146 rs72646833 0.7436 None gnomAD-4.0.0 1.18339E-03
19156 62 S/G 148 None 0.5065 None gnomAD-4.0.0 1.20032E-06
19156 62 S/R 148 rs2052061972 0.5065 None gnomAD-4.0.0 1.59263E-06
19157 63 H/N 149 None 0.2057 None gnomAD-4.0.0 1.20032E-06
19157 63 H/P 149 None 0.2057 None gnomAD-4.0.0 1.59263E-06
19157 63 H/Q 149 None 0.2057 None gnomAD-4.0.0 6.84461E-07
19159 65 G/D 152 None 0.1722 None gnomAD-4.0.0 2.05342E-06
19160 66 V/F 153 rs200778464 0.3791 None gnomAD-2.1.1 4.03E-06
19160 66 V/F 153 rs200778464 0.3791 None gnomAD-4.0.0 6.84489E-07
19160 66 V/I 153 None 0.3791 None gnomAD-2.1.1 9.28E-05
19160 66 V/I 153 None 0.3791 None gnomAD-3.1.2 8.55E-05
19160 66 V/I 153 None 0.3791 None 1000 genomes 5.99042E-04
19160 66 V/I 153 None 0.3791 None gnomAD-4.0.0 5.39335E-05
19160 66 V/L 153 rs200778464 0.3791 None gnomAD-2.1.1 1.3965E-04
19160 66 V/L 153 rs200778464 0.3791 None gnomAD-3.1.2 1.84167E-04
19160 66 V/L 153 rs200778464 0.3791 None gnomAD-4.0.0 3.04406E-04
19161 67 Y/C 154 rs754992982 0.1257 None gnomAD-2.1.1 8.07E-06
19161 67 Y/C 154 rs754992982 0.1257 None gnomAD-4.0.0 3.18544E-06
19162 68 S/C 155 rs751697133 0.1704 None gnomAD-2.1.1 4.03E-06
19162 68 S/C 155 rs751697133 0.1704 None gnomAD-4.0.0 1.59286E-06
19165 71 A/D 158 None 0.0889 None gnomAD-4.0.0 1.59354E-06
19165 71 A/T 158 None 0.0889 None gnomAD-4.0.0 6.8461E-07
19167 73 N/T 161 None 0.1036 None gnomAD-4.0.0 4.78077E-06
19168 74 E/D 162 None 0.6786 None gnomAD-4.0.0 1.59371E-06
19169 75 A/D 163 rs183460369 0.2355 None 1000 genomes 1.99681E-04
19169 75 A/S 163 None 0.2355 None gnomAD-4.0.0 1.20032E-06
19169 75 A/V 163 rs183460369 0.2355 None gnomAD-2.1.1 4.04E-06
19169 75 A/V 163 rs183460369 0.2355 None gnomAD-3.1.2 6.58E-06
19169 75 A/V 163 rs183460369 0.2355 None gnomAD-4.0.0 6.57973E-06
19170 76 G/R 164 rs750947988 0.2133 None gnomAD-2.1.1 4.31E-05
19170 76 G/R 164 rs750947988 0.2133 None gnomAD-3.1.2 1.32E-05
19170 76 G/R 164 rs750947988 0.2133 None gnomAD-4.0.0 3.10093E-06
19171 77 E/D 165 rs1336572804 0.4975 None gnomAD-2.1.1 4.05E-06
19171 77 E/D 165 rs1336572804 0.4975 None gnomAD-4.0.0 3.18854E-06
19173 79 K/N 168 rs1009412718 0.4188 None gnomAD-2.1.1 8.11E-06
19173 79 K/N 168 rs1009412718 0.4188 None gnomAD-3.1.2 6.58E-06
19173 79 K/N 168 rs1009412718 0.4188 None gnomAD-4.0.0 6.41728E-06
19175 81 T/I 171 rs1450515648 0.5033 None gnomAD-2.1.1 8.12E-06
19175 81 T/I 171 rs1450515648 0.5033 None gnomAD-4.0.0 3.19038E-06
19175 81 T/K 171 rs1450515648 0.5033 None gnomAD-2.1.1 7.2E-06
19175 81 T/K 171 rs1450515648 0.5033 None gnomAD-3.1.2 6.58E-06
19175 81 T/K 171 rs1450515648 0.5033 None gnomAD-4.0.0 6.57549E-06
19177 83 I/L 173 rs1338580543 0.4278 None gnomAD-2.1.1 4.06E-06
19177 83 I/L 173 rs1338580543 0.4278 None gnomAD-4.0.0 1.5959E-06
19177 83 I/T 173 None 0.4278 None gnomAD-4.0.0 1.59609E-06
19177 83 I/V 173 rs1338580543 0.4278 None gnomAD-2.1.1 7.21E-06
19177 83 I/V 173 rs1338580543 0.4278 None gnomAD-3.1.2 6.58E-06
19177 83 I/V 173 rs1338580543 0.4278 None gnomAD-4.0.0 6.57505E-06
19178 84 V/A 174 None 0.1058 None gnomAD-4.0.0 3.60097E-06
19178 84 V/I 174 rs762241944 0.1058 None gnomAD-2.1.1 7.74E-05
19178 84 V/I 174 rs762241944 0.1058 None gnomAD-4.0.0 2.1241E-05
19179 85 D/N 175 rs1383899808 0.3129 None gnomAD-4.0.0 6.85537E-07