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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7137 1 P/H 1 None 0.1883 None gnomAD-4.0.0 7.00313E-07
7137 1 P/L 1 rs886043853 0.1883 None gnomAD-3.1.2 6.58E-06
7137 1 P/L 1 rs886043853 0.1883 None gnomAD-4.0.0 3.16453E-06
7137 1 P/R 1 rs886043853 0.1883 None gnomAD-2.1.1 4.63E-06
7137 1 P/R 1 rs886043853 0.1883 None gnomAD-4.0.0 2.80125E-06
7138 2 S/A 2 rs2078830864 0.2617 None gnomAD-3.1.2 6.57E-06
7138 2 S/A 2 rs2078830864 0.2617 None gnomAD-4.0.0 6.57289E-06
7139 3 F/L 3 None 0.2040 None gnomAD-4.0.0 6.97654E-07
7139 3 F/S 3 rs374010248 0.2040 None gnomAD-3.1.2 6.57E-06
7139 3 F/S 3 rs374010248 0.2040 None gnomAD-4.0.0 2.52358E-06
7139 3 F/Y 3 rs374010248 0.2040 None gnomAD-2.1.1 5.97E-05
7139 3 F/Y 3 rs374010248 0.2040 None gnomAD-3.1.2 5.91E-05
7139 3 F/Y 3 rs374010248 0.2040 None gnomAD-4.0.0 1.51403E-05
7145 9 P/S 11 rs745988872 0.4274 None gnomAD-2.1.1 4.3E-06
7145 9 P/S 11 rs745988872 0.4274 None gnomAD-4.0.0 1.63743E-06
7147 11 E/K 14 None 0.7973 None gnomAD-4.0.0 3.23355E-06
7148 12 V/G 16 None 0.1040 None gnomAD-4.0.0 1.20032E-06
7148 12 V/I 16 rs778943017 0.1040 None gnomAD-2.1.1 1.25E-05
7148 12 V/I 16 rs778943017 0.1040 None gnomAD-4.0.0 8.06975E-06
7150 14 P/S 23 rs1248770778 0.4949 None gnomAD-4.0.0 3.21365E-06
7151 15 G/V 24 None 0.3064 None gnomAD-4.0.0 1.60651E-06
7153 17 N/S 26 rs1287422733 0.3410 None gnomAD-2.1.1 4.09E-06
7153 17 N/S 26 rs1287422733 0.3410 None gnomAD-4.0.0 1.60046E-06
7154 18 V/I 28 None 0.0998 None gnomAD-4.0.0 1.20032E-06
7155 19 T/A 29 None 0.4491 None gnomAD-4.0.0 1.20032E-06
7156 20 F/Y 30 None 0.1074 None gnomAD-4.0.0 1.20032E-06
7158 22 S/G 33 None 0.1138 None gnomAD-4.0.0 3.19292E-06
7158 22 S/N 33 rs1325004608 0.1138 None gnomAD-2.1.1 3.19E-05
7158 22 S/N 33 rs1325004608 0.1138 None gnomAD-3.1.2 6.57E-06
7158 22 S/N 33 rs1325004608 0.1138 None gnomAD-4.0.0 6.57358E-06
7158 22 S/R 33 rs1229825752 0.1138 None gnomAD-2.1.1 4.07E-06
7158 22 S/R 33 rs1229825752 0.1138 None gnomAD-3.1.2 6.57E-06
7158 22 S/R 33 rs1229825752 0.1138 None gnomAD-4.0.0 6.85415E-07
7158 22 S/T 33 rs1325004608 0.1138 None gnomAD-3.1.2 6.57E-06
7158 22 S/T 33 rs1325004608 0.1138 None gnomAD-4.0.0 3.04496E-06
7159 23 V/A 34 rs749509937 0.3713 None gnomAD-2.1.1 8.11E-06
7159 23 V/A 34 rs749509937 0.3713 None gnomAD-4.0.0 6.84945E-06
7159 23 V/I 34 rs371267140 0.3713 None gnomAD-2.1.1 3.96E-05
7159 23 V/I 34 rs371267140 0.3713 None gnomAD-3.1.2 8.55E-05
7159 23 V/I 34 rs371267140 0.3713 None gnomAD-4.0.0 3.41186E-05
7160 24 I/T 35 None 0.1034 None gnomAD-4.0.0 2.40065E-06
7161 25 R/K 38 rs1225806135 0.5058 None gnomAD-2.1.1 4.05E-06
7161 25 R/K 38 rs1225806135 0.5058 None gnomAD-3.1.2 6.57E-06
7161 25 R/K 38 rs1225806135 0.5058 None gnomAD-4.0.0 3.84877E-06
7162 26 G/R 40 rs1288993592 0.3038 None gnomAD-2.1.1 4.04E-06
7162 26 G/R 40 rs1288993592 0.3038 None gnomAD-4.0.0 1.59343E-06
7163 27 T/I 41 rs370324138 0.5556 None gnomAD-2.1.1 1.21E-05
7163 27 T/I 41 rs370324138 0.5556 None gnomAD-3.1.2 2.63E-05
7163 27 T/I 41 rs370324138 0.5556 None gnomAD-4.0.0 4.95995E-06
7163 27 T/N 41 rs370324138 0.5556 None gnomAD-2.1.1 8.08E-06
7163 27 T/N 41 rs370324138 0.5556 None gnomAD-4.0.0 1.23219E-05
7164 28 P/A 42 rs927054837 0.2837 None gnomAD-4.0.0 1.36911E-05
7164 28 P/L 42 rs981191810 0.2837 None gnomAD-2.1.1 8.08E-06
7164 28 P/L 42 rs981191810 0.2837 None gnomAD-3.1.2 1.31E-05
7164 28 P/L 42 rs981191810 0.2837 None gnomAD-4.0.0 3.84664E-06
7165 29 P/L 43 rs1370391729 0.7422 None gnomAD-2.1.1 4.04E-06
7165 29 P/L 43 rs1370391729 0.7422 None gnomAD-4.0.0 1.59299E-06
7166 30 F/C 44 rs781740874 0.1524 None gnomAD-2.1.1 1.61E-05
7166 30 F/C 44 rs781740874 0.1524 None gnomAD-3.1.2 6.57E-06
7166 30 F/C 44 rs781740874 0.1524 None gnomAD-4.0.0 5.57935E-06
7168 32 V/A 46 None 0.2813 None gnomAD-4.0.0 1.3689E-06
7169 33 N/I 47 rs786205314 0.2426 None gnomAD-3.1.2 6.57E-06
7169 33 N/I 47 rs786205314 0.2426 None gnomAD-4.0.0 6.5741E-06
7169 33 N/S 47 rs786205314 0.2426 None gnomAD-2.1.1 1.61E-05
7169 33 N/S 47 rs786205314 0.2426 None gnomAD-4.0.0 1.30043E-05
7169 33 N/T 47 None 0.2426 None gnomAD-2.1.1 8.07E-06
7169 33 N/T 47 None 0.2426 None gnomAD-3.1.2 1.31E-05
7169 33 N/T 47 None 0.2426 None gnomAD-4.0.0 8.05871E-06
7170 34 W/R 48 rs755516123 0.1186 None gnomAD-2.1.1 8.07E-06
7170 34 W/R 48 rs755516123 0.1186 None gnomAD-4.0.0 3.18516E-06
7171 35 F/L 49 None 0.2324 None gnomAD-4.0.0 1.36884E-06
7171 35 F/V 49 rs750008949 0.2324 None gnomAD-2.1.1 8.06E-06
7171 35 F/V 49 rs750008949 0.2324 None gnomAD-3.1.2 6.57E-06
7171 35 F/V 49 rs750008949 0.2324 None gnomAD-4.0.0 2.04564E-05
7173 37 G/D 51 rs1479016308 0.4008 None gnomAD-3.1.2 6.57E-06
7173 37 G/D 51 rs1479016308 0.4008 None gnomAD-4.0.0 3.04503E-06
7173 37 G/S 51 rs1451038846 0.4008 None gnomAD-2.1.1 3.19E-05
7173 37 G/S 51 rs1451038846 0.4008 None gnomAD-3.1.2 1.97E-05
7173 37 G/S 51 rs1451038846 0.4008 None gnomAD-4.0.0 7.43853E-06
7174 38 A/V 52 rs764832849 0.6735 None gnomAD-2.1.1 1.21E-05
7174 38 A/V 52 rs764832849 0.6735 None gnomAD-3.1.2 5.92E-05
7174 38 A/V 52 rs764832849 0.6735 None gnomAD-4.0.0 1.61169E-05
7175 39 R/G 55 rs373166589 0.7176 None gnomAD-2.1.1 8.06E-06
7175 39 R/G 55 rs373166589 0.7176 None gnomAD-3.1.2 6.57E-06
7175 39 R/G 55 rs373166589 0.7176 None gnomAD-4.0.0 4.33886E-06
7175 39 R/S 55 None 0.7176 None gnomAD-4.0.0 1.5922E-06
7175 39 R/T 55 rs1578045796 0.7176 None gnomAD-3.1.2 6.57E-06
7175 39 R/T 55 rs1578045796 0.7176 None gnomAD-4.0.0 6.57263E-06
7176 40 E/G 56 rs2078807925 0.6181 None gnomAD-4.0.0 2.40064E-06
7178 42 V/L 59 rs753557450 0.6033 None gnomAD-2.1.1 4.03E-06
7178 42 V/L 59 rs753557450 0.6033 None gnomAD-4.0.0 1.59227E-06
7178 42 V/M 59 rs753557450 0.6033 None gnomAD-2.1.1 3.19E-05
7178 42 V/M 59 rs753557450 0.6033 None gnomAD-3.1.2 1.31E-05
7178 42 V/M 59 rs753557450 0.6033 None gnomAD-4.0.0 3.84532E-06
7180 44 G/R 73 rs760549917 0.3183 None gnomAD-2.1.1 3.62E-05
7180 44 G/R 73 rs760549917 0.3183 None gnomAD-3.1.2 1.31E-05
7180 44 G/R 73 rs760549917 0.3183 None gnomAD-4.0.0 1.85951E-05
7181 45 D/G 102 None 1.0978 None gnomAD-4.0.0 3.18433E-06
7182 46 R/G 115 None 0.6203 None gnomAD-4.0.0 6.84392E-07
7182 46 R/Q 115 rs200447686 0.6203 None gnomAD-2.1.1 5.36E-05
7182 46 R/Q 115 rs200447686 0.6203 None gnomAD-3.1.2 5.26E-05
7182 46 R/Q 115 rs200447686 0.6203 None gnomAD-4.0.0 7.00453E-05
7182 46 R/W 115 rs727504736 0.6203 None gnomAD-2.1.1 9.26E-05
7182 46 R/W 115 rs727504736 0.6203 None gnomAD-3.1.2 3.29E-05
7182 46 R/W 115 rs727504736 0.6203 None gnomAD-4.0.0 4.27725E-05
7183 47 C/G 121 None 0.0924 None gnomAD-4.0.0 1.59216E-06
7183 47 C/R 121 rs1295622488 0.0924 None gnomAD-2.1.1 8.05E-06
7183 47 C/R 121 rs1295622488 0.0924 None gnomAD-4.0.0 3.18433E-06
7183 47 C/Y 121 rs189951108 0.0924 None gnomAD-2.1.1 3.86076E-04
7183 47 C/Y 121 rs189951108 0.0924 None gnomAD-3.1.2 4.73342E-04
7183 47 C/Y 121 rs189951108 0.0924 None 1000 genomes 9.98403E-04
7183 47 C/Y 121 rs189951108 0.0924 None gnomAD-4.0.0 7.21462E-04
7184 48 N/D 122 rs1366031789 0.3164 None gnomAD-2.1.1 8.05E-06
7184 48 N/D 122 rs1366031789 0.3164 None gnomAD-4.0.0 6.36876E-06
7184 48 N/S 122 None 0.3164 None gnomAD-4.0.0 1.5922E-06
7185 49 I/F 123 rs552242411 0.1417 None gnomAD-2.1.1 4.03E-06
7185 49 I/F 123 rs552242411 0.1417 None gnomAD-3.1.2 1.31E-05
7185 49 I/F 123 rs552242411 0.1417 None 1000 genomes 1.99681E-04
7185 49 I/F 123 rs552242411 0.1417 None gnomAD-4.0.0 1.82672E-05
7185 49 I/L 123 None 0.1417 None gnomAD-3.1.2 6.57E-06
7185 49 I/L 123 None 0.1417 None gnomAD-4.0.0 6.57281E-06
7185 49 I/T 123 rs771134456 0.1417 None gnomAD-2.1.1 4.03E-06
7185 49 I/T 123 rs771134456 0.1417 None gnomAD-3.1.2 1.31E-05
7185 49 I/T 123 rs771134456 0.1417 None gnomAD-4.0.0 5.12686E-06
7186 50 Y/C 125 rs560240166 0.5904 None gnomAD-2.1.1 8.05E-06
7186 50 Y/C 125 rs560240166 0.5904 None gnomAD-3.1.2 1.31E-05
7186 50 Y/C 125 rs560240166 0.5904 None 1000 genomes 1.99681E-04
7186 50 Y/C 125 rs560240166 0.5904 None gnomAD-4.0.0 1.23957E-05
7187 51 F/S 127 rs769799292 0.7403 None gnomAD-4.0.0 1.59223E-06
7187 51 F/Y 127 rs769799292 0.7403 None gnomAD-2.1.1 1.07E-05
7187 51 F/Y 127 rs769799292 0.7403 None gnomAD-3.1.2 6.57E-06
7187 51 F/Y 127 rs769799292 0.7403 None gnomAD-4.0.0 3.84516E-06
7191 55 V/M 135 rs1338451033 0.2469 None gnomAD-3.1.2 6.57E-06
7191 55 V/M 135 rs1338451033 0.2469 None gnomAD-4.0.0 6.57246E-06
7192 56 A/T 136 rs1212601280 0.1239 None gnomAD-3.1.2 6.57E-06
7192 56 A/T 136 rs1212601280 0.1239 None gnomAD-4.0.0 7.43847E-06
7192 56 A/V 136 rs1560705548 0.1239 None gnomAD-4.0.0 1.59242E-06
7194 58 L/P 138 None 0.0442 None gnomAD-4.0.0 1.59231E-06
7195 59 E/G 139 rs2078794868 0.1809 None gnomAD-3.1.2 6.57E-06
7195 59 E/G 139 rs2078794868 0.1809 None gnomAD-4.0.0 6.57134E-06
7197 61 F/L 141 rs185823757 0.2335 None gnomAD-2.1.1 2.15E-05
7197 61 F/L 141 rs185823757 0.2335 None gnomAD-3.1.2 3.29E-05
7197 61 F/L 141 rs185823757 0.2335 None 1000 genomes 5.99042E-04
7197 61 F/L 141 rs185823757 0.2335 None gnomAD-4.0.0 5.57834E-06
7199 63 I/S 144 rs781566455 0.0543 None gnomAD-3.1.2 6.57E-06
7199 63 I/S 144 rs781566455 0.0543 None gnomAD-4.0.0 6.57194E-06
7199 63 I/T 144 rs781566455 0.0543 None gnomAD-2.1.1 1.21E-05
7199 63 I/T 144 rs781566455 0.0543 None gnomAD-3.1.2 1.97E-05
7199 63 I/T 144 rs781566455 0.0543 None gnomAD-4.0.0 4.95888E-06
7201 65 I/M 146 None 0.9793 None gnomAD-4.0.0 2.05328E-06
7201 65 I/V 146 rs755330865 0.9793 None gnomAD-2.1.1 4.03E-06
7201 65 I/V 146 rs755330865 0.9793 None gnomAD-4.0.0 4.1065E-06
7202 66 S/C 148 rs747376234 0.4595 None gnomAD-2.1.1 1.61E-05
7202 66 S/C 148 rs747376234 0.4595 None gnomAD-4.0.0 7.96257E-06
7202 66 S/P 148 None 0.4595 None gnomAD-4.0.0 3.18488E-06
7203 67 Q/H 149 rs1374160884 0.1601 None gnomAD-3.1.2 6.57E-06
7203 67 Q/H 149 rs1374160884 0.1601 None gnomAD-4.0.0 2.47953E-06
7203 67 Q/P 149 None 0.1601 None gnomAD-4.0.0 2.46701E-05
7203 67 Q/R 149 None 0.1601 None gnomAD-4.0.0 6.8526E-07
7204 68 S/R 151 rs780624577 0.2243 None gnomAD-2.1.1 2.01E-05
7204 68 S/R 151 rs780624577 0.2243 None gnomAD-4.0.0 4.79094E-06
7205 69 G/E 152 rs2078790720 0.2246 None gnomAD-4.0.0 1.59253E-06
7208 72 T/I 155 rs1250736680 0.1698 None gnomAD-2.1.1 4.03E-06
7208 72 T/I 155 rs1250736680 0.1698 None gnomAD-4.0.0 2.05326E-06
7208 72 T/N 155 rs1250736680 0.1698 None gnomAD-4.0.0 2.73769E-06
7210 74 V/A 157 rs2078787546 0.1726 None gnomAD-3.1.2 6.57E-06
7210 74 V/A 157 rs2078787546 0.1726 None gnomAD-4.0.0 6.57151E-06
7210 74 V/M 157 rs2078788121 0.1726 None gnomAD-4.0.0 2.73776E-06
7211 75 V/I 158 None 0.0825 None gnomAD-4.0.0 1.59255E-06
7212 76 S/F 159 None 0.2323 None gnomAD-4.0.0 2.05334E-06
7213 77 N/K 161 rs562167496 0.1692 None gnomAD-2.1.1 8.07E-06
7213 77 N/K 161 rs562167496 0.1692 None gnomAD-3.1.2 6.57E-06
7213 77 N/K 161 rs562167496 0.1692 None 1000 genomes 1.99681E-04
7213 77 N/K 161 rs562167496 0.1692 None gnomAD-4.0.0 1.85958E-06
7213 77 N/T 161 rs794729623 0.1692 None gnomAD-3.1.2 6.57E-06
7213 77 N/T 161 rs794729623 0.1692 None gnomAD-4.0.0 4.33919E-06
7214 78 N/D 162 rs998292768 1.0621 None gnomAD-4.0.0 3.18527E-06
7214 78 N/S 162 rs755600935 1.0621 None gnomAD-2.1.1 4.03E-06
7215 79 A/P 163 None 0.6175 None gnomAD-4.0.0 6.84525E-07
7215 79 A/S 163 rs767445301 0.6175 None gnomAD-3.1.2 6.57E-06
7215 79 A/S 163 rs767445301 0.6175 None gnomAD-4.0.0 2.47991E-06
7215 79 A/T 163 rs767445301 0.6175 None gnomAD-2.1.1 1.21E-05
7215 79 A/T 163 rs767445301 0.6175 None gnomAD-3.1.2 1.97E-05
7215 79 A/T 163 rs767445301 0.6175 None gnomAD-4.0.0 8.67968E-06
7215 79 A/V 163 rs759533714 0.6175 None gnomAD-2.1.1 2.02E-05
7215 79 A/V 163 rs759533714 0.6175 None gnomAD-4.0.0 1.43342E-05
7216 80 G/D 164 rs766206440 0.2442 None gnomAD-2.1.1 4.04E-06
7216 80 G/D 164 rs766206440 0.2442 None gnomAD-4.0.0 1.5931E-06
7216 80 G/S 164 None 0.2442 None gnomAD-4.0.0 1.20032E-06
7218 82 A/T 166 rs1286778967 0.1702 None gnomAD-2.1.1 4.04E-06
7218 82 A/T 166 rs1286778967 0.1702 None gnomAD-4.0.0 4.77948E-06
7218 82 A/V 166 rs763125654 0.1702 None gnomAD-2.1.1 6.06E-05
7218 82 A/V 166 rs763125654 0.1702 None gnomAD-4.0.0 2.86757E-05
7219 83 S/F 168 rs201029552 0.4748 None gnomAD-2.1.1 2.72308E-04
7219 83 S/F 168 rs201029552 0.4748 None gnomAD-3.1.2 2.16868E-04
7219 83 S/F 168 rs201029552 0.4748 None 1000 genomes 3.99361E-04
7219 83 S/F 168 rs201029552 0.4748 None gnomAD-4.0.0 2.34959E-04
7220 84 C/Y 169 None 0.1063 None gnomAD-4.0.0 1.20032E-06
7221 85 T/A 171 rs879220825 0.2693 None gnomAD-3.1.2 6.57E-06
7221 85 T/A 171 rs879220825 0.2693 None gnomAD-4.0.0 6.57142E-06
7221 85 T/I 171 rs1360941673 0.2693 None gnomAD-4.0.0 1.20032E-06
7221 85 T/P 171 rs879220825 0.2693 None gnomAD-2.1.1 4.04E-06
7221 85 T/P 171 rs879220825 0.2693 None gnomAD-4.0.0 1.59337E-06
7222 86 T/I 172 rs776840421 0.1311 None gnomAD-2.1.1 1.21E-05
7222 86 T/I 172 rs776840421 0.1311 None gnomAD-4.0.0 7.53268E-06
7222 86 T/P 172 None 0.1311 None gnomAD-4.0.0 1.59454E-06
7222 86 T/S 172 rs776840421 0.1311 None gnomAD-2.1.1 4.04E-06
7222 86 T/S 172 rs776840421 0.1311 None gnomAD-3.1.2 6.57E-06
7222 86 T/S 172 rs776840421 0.1311 None gnomAD-4.0.0 1.8605E-06
7223 87 R/C 173 rs1156609638 0.4220 None gnomAD-3.1.2 6.57E-06
7223 87 R/C 173 rs1156609638 0.4220 None gnomAD-4.0.0 4.34194E-06
7223 87 R/H 173 rs138853909 0.4220 None gnomAD-2.1.1 5.82411E-04
7223 87 R/H 173 rs138853909 0.4220 None gnomAD-3.1.2 9.33547E-04
7223 87 R/H 173 rs138853909 0.4220 None 1000 genomes 9.98403E-04
7223 87 R/H 173 rs138853909 0.4220 None gnomAD-4.0.0 3.27005E-04
7224 88 L/F 174 rs747568681 0.0633 None gnomAD-2.1.1 4.05E-06
7224 88 L/F 174 rs747568681 0.0633 None gnomAD-4.0.0 1.59592E-06
7225 89 F/L 175 None 0.4713 None gnomAD-4.0.0 1.59947E-06
7225 89 F/S 175 rs780534846 0.4713 None gnomAD-2.1.1 1.22E-05
7225 89 F/S 175 rs780534846 0.4713 None gnomAD-4.0.0 2.74246E-06
7226 90 V/M 177 None 0.4066 None gnomAD-4.0.0 6.8583E-07