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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9900 1 V/A 1 None 0.3939 None gnomAD-4.0.0 1.20032E-06
9900 1 V/I 1 rs2075588711 0.3939 None gnomAD-3.1.2 6.57E-06
9900 1 V/I 1 rs2075588711 0.3939 None gnomAD-4.0.0 6.44375E-06
9901 2 T/A 2 None 0.4991 None gnomAD-4.0.0 1.37252E-06
9901 2 T/I 2 None 0.4991 None gnomAD-4.0.0 1.60235E-06
9901 2 T/P 2 rs1295313284 0.4991 None gnomAD-2.1.1 1.22E-05
9901 2 T/P 2 rs1295313284 0.4991 None gnomAD-4.0.0 1.64703E-05
9902 3 L/R 3 rs1430193759 0.3360 None gnomAD-4.0.0 1.60219E-06
9902 3 L/V 3 None 0.3360 None gnomAD-4.0.0 1.60252E-06
9903 4 I/M 4 rs1437200210 0.5113 None gnomAD-4.0.0 2.05823E-06
9904 5 K/N 5 rs2075586550 0.3315 None gnomAD-3.1.2 6.57E-06
9904 5 K/N 5 rs2075586550 0.3315 None gnomAD-4.0.0 6.57151E-06
9904 5 K/Q 5 None 0.3315 None gnomAD-4.0.0 3.60097E-06
9904 5 K/R 5 rs1268665035 0.3315 None gnomAD-4.0.0 1.60131E-06
9904 5 K/T 5 None 0.3315 None gnomAD-4.0.0 1.60131E-06
9906 7 I/T 8 rs367712022 0.1401 None gnomAD-2.1.1 1.22E-05
9906 7 I/T 8 rs367712022 0.1401 None gnomAD-3.1.2 6.57E-06
9906 7 I/T 8 rs367712022 0.1401 None gnomAD-4.0.0 3.10495E-06
9906 7 I/V 8 rs759931516 0.1401 None gnomAD-2.1.1 4.06E-06
9906 7 I/V 8 rs759931516 0.1401 None gnomAD-4.0.0 1.20032E-06
9907 8 E/D 9 rs771151409 0.8237 None gnomAD-2.1.1 4.06E-06
9908 9 N/S 11 None 0.6434 None gnomAD-4.0.0 1.59983E-06
9910 11 T/R 14 None 0.5079 None gnomAD-4.0.0 1.20032E-06
9911 12 V/A 16 None 0.1628 None gnomAD-4.0.0 1.20032E-06
9911 12 V/F 16 None 0.1628 None gnomAD-4.0.0 6.85732E-07
9911 12 V/L 16 rs2075583653 0.1628 None gnomAD-3.1.2 1.31E-05
9911 12 V/L 16 rs2075583653 0.1628 None gnomAD-4.0.0 1.8628E-06
9912 13 L/W 18 None 0.6860 None gnomAD-4.0.0 1.59922E-06
9915 16 N/T 25 None 0.5024 None gnomAD-4.0.0 1.20033E-06
9916 17 D/E 26 rs990983452 0.3833 None gnomAD-2.1.1 4.06E-06
9916 17 D/E 26 rs990983452 0.3833 None gnomAD-4.0.0 6.85456E-07
9916 17 D/G 26 rs768314420 0.3833 None gnomAD-2.1.1 1.22E-05
9916 17 D/G 26 rs768314420 0.3833 None gnomAD-3.1.2 6.57E-06
9916 17 D/G 26 rs768314420 0.3833 None gnomAD-4.0.0 5.14235E-06
9916 17 D/N 26 None 0.3833 None gnomAD-4.0.0 1.59866E-06
9916 17 D/V 26 rs768314420 0.3833 None gnomAD-2.1.1 4.06E-06
9916 17 D/V 26 rs768314420 0.3833 None gnomAD-3.1.2 6.57E-06
9916 17 D/V 26 rs768314420 0.3833 None gnomAD-4.0.0 3.59965E-05
9917 18 A/V 28 None 0.1308 None gnomAD-4.0.0 1.20034E-06
9919 20 F/C 30 None 0.1023 None gnomAD-4.0.0 6.8535E-07
9919 20 F/L 30 None 0.1023 None gnomAD-4.0.0 1.5976E-06
9919 20 F/S 30 None 0.1023 None gnomAD-4.0.0 6.8535E-07
9921 22 I/T 33 rs373651676 0.0758 None gnomAD-2.1.1 3.97E-05
9921 22 I/T 33 rs373651676 0.0758 None gnomAD-3.1.2 1.31E-05
9921 22 I/T 33 rs373651676 0.0758 None gnomAD-4.0.0 4.34417E-05
9922 23 D/H 34 None 0.2303 None gnomAD-4.0.0 2.05623E-06
9923 24 I/T 35 None 0.1083 None gnomAD-4.0.0 1.20034E-06
9925 26 I/N 39 None 0.2796 None gnomAD-4.0.0 1.20034E-06
9925 26 I/V 39 None 0.2796 None gnomAD-4.0.0 1.59695E-06
9926 27 N/D 40 None 0.4197 None gnomAD-4.0.0 1.59676E-06
9926 27 N/I 40 rs377147236 0.4197 None gnomAD-2.1.1 1.23E-05
9926 27 N/I 40 rs377147236 0.4197 None gnomAD-4.0.0 3.70044E-05
9926 27 N/T 40 rs377147236 0.4197 None gnomAD-2.1.1 8.17E-06
9926 27 N/T 40 rs377147236 0.4197 None gnomAD-3.1.2 6.57E-06
9926 27 N/T 40 rs377147236 0.4197 None gnomAD-4.0.0 6.82592E-06
9928 29 P/S 42 None 0.6438 None gnomAD-4.0.0 6.8528E-07
9929 30 E/G 43 rs1340062320 0.5188 None gnomAD-4.0.0 5.48172E-06
9929 30 E/K 43 rs1204774037 0.5188 None gnomAD-2.1.1 7.25E-06
9929 30 E/K 43 rs1204774037 0.5188 None gnomAD-3.1.2 3.29E-05
9929 30 E/K 43 rs1204774037 0.5188 None gnomAD-4.0.0 2.79254E-05
9930 31 I/S 44 rs757077819 0.2629 None gnomAD-2.1.1 2.86E-05
9930 31 I/S 44 rs757077819 0.2629 None gnomAD-3.1.2 6.57E-06
9930 31 I/S 44 rs757077819 0.2629 None gnomAD-4.0.0 1.30308E-05
9930 31 I/T 44 None 0.2629 None gnomAD-4.0.0 2.05567E-06
9930 31 I/V 44 rs373215746 0.2629 None gnomAD-3.1.2 6.57E-06
9930 31 I/V 44 rs373215746 0.2629 None gnomAD-4.0.0 2.56861E-06
9931 32 K/N 45 None 0.8348 None gnomAD-4.0.0 1.59616E-06
9932 33 L/I 46 rs753689443 0.2503 None gnomAD-2.1.1 4.08E-06
9932 33 L/I 46 rs753689443 0.2503 None gnomAD-3.1.2 6.57E-06
9932 33 L/P 46 rs1300557715 0.2503 None gnomAD-2.1.1 1.22E-05
9932 33 L/P 46 rs1300557715 0.2503 None gnomAD-4.0.0 4.78761E-06
9933 34 S/L 47 rs764352461 0.2476 None gnomAD-2.1.1 1.09E-05
9933 34 S/L 47 rs764352461 0.2476 None gnomAD-3.1.2 3.94E-05
9933 34 S/L 47 rs764352461 0.2476 None gnomAD-4.0.0 1.1789E-05
9933 34 S/P 47 rs1186600028 0.2476 None gnomAD-4.0.0 1.59584E-06
9934 35 W/C 48 rs1046404085 0.1539 None gnomAD-3.1.2 6.57E-06
9934 35 W/C 48 rs1046404085 0.1539 None gnomAD-4.0.0 6.57376E-06
9934 35 W/R 48 rs753005176 0.1539 None gnomAD-2.1.1 4.08E-06
9934 35 W/R 48 rs753005176 0.1539 None gnomAD-4.0.0 4.11023E-06
9935 36 Y/C 49 rs1428709009 0.2019 None gnomAD-2.1.1 4.08E-06
9935 36 Y/C 49 rs1428709009 0.2019 None gnomAD-4.0.0 2.05495E-06
9937 38 G/R 51 rs2075573477 0.3212 None gnomAD-4.0.0 1.59557E-06
9938 39 T/S 52 rs72650006 0.9267 None gnomAD-2.1.1 1.93526E-02
9938 39 T/S 52 rs72650006 0.9267 None gnomAD-3.1.2 1.91004E-02
9938 39 T/S 52 rs72650006 0.9267 None 1000 genomes 1.05831E-02
9938 39 T/S 52 rs72650006 0.9267 None gnomAD-4.0.0 2.18754E-02
9939 40 E/Q 55 rs727503638 0.6922 None gnomAD-2.1.1 1.22E-05
9939 40 E/Q 55 rs727503638 0.6922 None gnomAD-4.0.0 6.84983E-06
9942 43 E/D 59 None 0.4571 None gnomAD-4.0.0 1.59497E-06
9943 44 P/L 70 None 0.5928 None gnomAD-4.0.0 1.59486E-06
9944 45 S/N 73 rs766917273 0.2679 None gnomAD-2.1.1 4.07E-06
9944 45 S/N 73 rs766917273 0.2679 None gnomAD-4.0.0 1.36974E-06
9944 45 S/T 73 rs766917273 0.2679 None gnomAD-2.1.1 4.07E-06
9944 45 S/T 73 rs766917273 0.2679 None gnomAD-4.0.0 6.8487E-07
9945 46 D/G 111 rs763249086 1.1212 None gnomAD-2.1.1 8.14E-06
9945 46 D/G 111 rs763249086 1.1212 None gnomAD-4.0.0 2.05457E-06
9946 47 K/N 115 rs1181662412 0.1568 None gnomAD-2.1.1 8.13E-06
9946 47 K/N 115 rs1181662412 0.1568 None gnomAD-4.0.0 1.59444E-06
9946 47 K/T 115 rs1268571982 0.1568 None gnomAD-2.1.1 4.07E-06
9947 48 F/C 121 None 0.1993 None gnomAD-4.0.0 6.8478E-07
9947 48 F/S 121 None 0.1993 None gnomAD-4.0.0 6.8478E-07
9950 51 S/C 125 None 0.4155 None gnomAD-4.0.0 2.05436E-06
9950 51 S/G 125 rs1560516000 0.4155 None gnomAD-2.1.1 3.18E-05
9950 51 S/G 125 rs1560516000 0.4155 None gnomAD-3.1.2 6.57E-06
9950 51 S/G 125 rs1560516000 0.4155 None gnomAD-4.0.0 4.34098E-06
9951 52 I/T 127 rs1482211815 0.5596 None gnomAD-2.1.1 4.06E-06
9951 52 I/T 127 rs1482211815 0.5596 None gnomAD-4.0.0 1.59395E-06
9951 52 I/V 127 None 0.5596 None gnomAD-4.0.0 3.42357E-06
9952 53 D/H 130 rs773555150 0.6787 None gnomAD-2.1.1 8.12E-06
9952 53 D/H 130 rs773555150 0.6787 None gnomAD-3.1.2 1.31E-05
9952 53 D/H 130 rs773555150 0.6787 None gnomAD-4.0.0 9.92195E-06
9953 54 G/C 131 rs770212603 0.4768 None gnomAD-2.1.1 1.08E-05
9953 54 G/C 131 rs770212603 0.4768 None gnomAD-3.1.2 1.31E-05
9953 54 G/C 131 rs770212603 0.4768 None gnomAD-4.0.0 3.7207E-06
9953 54 G/D 131 rs1201726118 0.4768 None gnomAD-2.1.1 3.18E-05
9953 54 G/D 131 rs1201726118 0.4768 None gnomAD-3.1.2 6.57E-06
9953 54 G/D 131 rs1201726118 0.4768 None gnomAD-4.0.0 9.13453E-06
9953 54 G/S 131 rs770212603 0.4768 None gnomAD-2.1.1 4.06E-06
9953 54 G/S 131 rs770212603 0.4768 None gnomAD-4.0.0 6.84735E-07
9955 56 R/Q 135 rs182332374 0.4041 None gnomAD-2.1.1 1.22E-05
9955 56 R/Q 135 rs182332374 0.4041 None gnomAD-3.1.2 1.31E-05
9955 56 R/Q 135 rs182332374 0.4041 None 1000 genomes 1.99681E-04
9955 56 R/Q 135 rs182332374 0.4041 None gnomAD-4.0.0 1.11615E-05
9956 57 H/Q 136 None 0.2245 None gnomAD-4.0.0 6.84609E-07
9956 57 H/R 136 rs1255328557 0.2245 None gnomAD-2.1.1 4.05E-06
9956 57 H/R 136 rs1255328557 0.2245 None gnomAD-4.0.0 3.42306E-06
9957 58 T/I 137 rs2154291224 0.2000 None gnomAD-4.0.0 1.20032E-06
9959 60 R/T 139 None 0.3426 None gnomAD-4.0.0 1.20032E-06
9960 61 V/I 140 None 0.0956 None gnomAD-4.0.0 2.40064E-06
9961 62 K/E 141 rs745410947 0.2575 None gnomAD-2.1.1 4.05E-06
9961 62 K/E 141 rs745410947 0.2575 None gnomAD-4.0.0 1.59273E-06
9961 62 K/N 141 None 0.2575 None gnomAD-4.0.0 7.20193E-06
9961 62 K/R 141 rs778649000 0.2575 None gnomAD-2.1.1 1.21E-05
9961 62 K/R 141 rs778649000 0.2575 None gnomAD-4.0.0 5.47539E-06
9962 63 N/S 143 None 0.4948 None gnomAD-4.0.0 2.40064E-06
9963 64 C/G 144 rs771005008 0.0760 None gnomAD-2.1.1 2.42E-05
9963 64 C/G 144 rs771005008 0.0760 None gnomAD-4.0.0 1.30036E-05
9964 65 Q/P 145 None 0.2234 None gnomAD-4.0.0 1.59238E-06
9965 66 L/F 146 None 0.8086 None gnomAD-4.0.0 8.40227E-06
9966 67 K/E 148 rs1222395628 0.6321 None gnomAD-4.0.0 1.20032E-06
9966 67 K/I 148 rs1400936440 0.6321 None gnomAD-3.1.2 1.31E-05
9966 67 K/I 148 rs1400936440 0.6321 None gnomAD-4.0.0 6.81735E-06
9966 67 K/R 148 rs1400936440 0.6321 None gnomAD-2.1.1 4.03E-06
9966 67 K/R 148 rs1400936440 0.6321 None gnomAD-4.0.0 6.84319E-07
9967 68 D/N 149 rs777682199 0.1624 None gnomAD-2.1.1 4.03E-06
9967 68 D/N 149 rs777682199 0.1624 None gnomAD-4.0.0 1.59193E-06
9968 69 Q/L 151 None 0.4096 None gnomAD-4.0.0 1.59195E-06
9969 70 G/D 152 rs756024325 0.2097 None gnomAD-2.1.1 8.05E-06
9969 70 G/D 152 rs756024325 0.2097 None gnomAD-4.0.0 4.77569E-06
9969 70 G/R 152 None 0.2097 None gnomAD-4.0.0 6.8434E-07
9969 70 G/S 152 rs961816213 0.2097 None gnomAD-2.1.1 3.18E-05
9969 70 G/S 152 rs961816213 0.2097 None gnomAD-3.1.2 6.57E-06
9969 70 G/S 152 rs961816213 0.2097 None gnomAD-4.0.0 4.3387E-06
9970 71 N/S 153 rs2075551861 0.6117 None gnomAD-3.1.2 6.57E-06
9970 71 N/S 153 rs2075551861 0.6117 None gnomAD-4.0.0 2.5628E-06
9971 72 Y/F 154 None 0.1143 None gnomAD-4.0.0 1.59184E-06
9971 72 Y/H 154 rs1471839553 0.1143 None gnomAD-2.1.1 4.02E-06
9972 73 R/P 155 None 0.1662 None gnomAD-4.0.0 6.84408E-07
9972 73 R/Q 155 rs752814410 0.1662 None gnomAD-4.0.0 3.42205E-06
9975 76 C/R 158 None 0.1195 None gnomAD-4.0.0 6.00161E-06
9976 77 G/C 159 None 0.3381 None gnomAD-4.0.0 1.59247E-06
9976 77 G/D 159 rs1183241604 0.3381 None gnomAD-2.1.1 4.02E-06
9976 77 G/D 159 rs1183241604 0.3381 None gnomAD-4.0.0 2.73784E-06
9977 78 P/S 165 rs1254687485 0.6972 None gnomAD-3.1.2 6.57E-06
9977 78 P/S 165 rs1254687485 0.6972 None gnomAD-4.0.0 3.84925E-06
9979 80 I/V 168 rs879217763 0.5633 None gnomAD-2.1.1 4.04E-06
9979 80 I/V 168 rs879217763 0.5633 None gnomAD-4.0.0 3.19222E-06
9980 81 A/S 169 rs189286381 0.1403 None gnomAD-2.1.1 1.79E-05
9980 81 A/S 169 rs189286381 0.1403 None gnomAD-3.1.2 1.31E-05
9980 81 A/S 169 rs189286381 0.1403 None gnomAD-4.0.0 1.61366E-05
9980 81 A/T 169 rs189286381 0.1403 None gnomAD-2.1.1 6.02544E-04
9980 81 A/T 169 rs189286381 0.1403 None gnomAD-3.1.2 3.15449E-04
9980 81 A/T 169 rs189286381 0.1403 None 1000 genomes 9.98403E-04
9980 81 A/T 169 rs189286381 0.1403 Other
Literature None
9980 81 A/T 169 rs189286381 0.1403 None gnomAD-4.0.0 1.97969E-04
9981 82 S/N 171 None 0.4656 None gnomAD-4.0.0 3.60097E-06
9981 82 S/T 171 None 0.4656 None gnomAD-4.0.0 1.20032E-06
9982 83 A/T 172 rs200745162 0.0984 None gnomAD-2.1.1 5.75E-05
9982 83 A/T 172 rs200745162 0.0984 None gnomAD-3.1.2 5.91E-05
9982 83 A/T 172 rs200745162 0.0984 None gnomAD-4.0.0 7.08031E-05
9984 85 L/I 174 rs765561226 0.0873 None gnomAD-3.1.2 6.57E-06
9984 85 L/I 174 rs765561226 0.0873 None gnomAD-4.0.0 1.86505E-06
9984 85 L/R 174 None 0.0873 None gnomAD-4.0.0 1.61762E-06
9985 86 T/I 175 rs1339300021 0.2656 None gnomAD-4.0.0 4.82177E-06
9985 86 T/S 175 None 0.2656 None gnomAD-4.0.0 6.88825E-07
9986 87 V/I 178 rs897070145 0.1424 None gnomAD-4.0.0 1.37799E-06