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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1841 1 P/A 1 rs2092223128 0.1976 None gnomAD-4.0.0 1.59142E-06
1841 1 P/S 1 None 0.1976 None gnomAD-4.0.0 1.59142E-06
1841 1 P/T 1 None 0.1976 None gnomAD-4.0.0 1.59142E-06
1842 2 D/H 2 None 0.4852 None gnomAD-4.0.0 6.84204E-07
1842 2 D/N 2 rs1469586209 0.4852 None gnomAD-2.1.1 3.98E-06
1842 2 D/N 2 rs1469586209 0.4852 None gnomAD-4.0.0 6.84204E-07
1843 3 I/T 3 None 0.0989 None gnomAD-4.0.0 1.59108E-06
1843 3 I/V 3 None 0.0989 None gnomAD-4.0.0 6.00161E-06
1844 4 V/D 4 None 0.4136 None gnomAD-4.0.0 1.59103E-06
1844 4 V/F 4 rs769474668 0.4136 None gnomAD-2.1.1 3.98E-06
1844 4 V/F 4 rs769474668 0.4136 None gnomAD-3.1.2 3.29E-05
1844 4 V/F 4 rs769474668 0.4136 None gnomAD-4.0.0 1.73501E-05
1846 6 Y/C 7 rs746592442 0.4159 None gnomAD-2.1.1 3.98E-06
1846 6 Y/C 7 rs746592442 0.4159 None gnomAD-4.0.0 1.59093E-06
1847 7 P/S 8 rs138778559 0.1697 None gnomAD-2.1.1 3.98E-06
1847 7 P/S 8 rs138778559 0.1697 None gnomAD-4.0.0 1.59104E-06
1849 9 P/A 11 rs771747683 0.5333 None gnomAD-2.1.1 1.19E-05
1849 9 P/A 11 rs771747683 0.5333 None gnomAD-4.0.0 3.42084E-06
1851 11 R/T 14 None 0.6779 None gnomAD-4.0.0 9.60257E-06
1852 12 V/I 16 None 0.1741 None gnomAD-4.0.0 6.84119E-07
1853 13 L/F 18 rs778377360 0.6385 None gnomAD-2.1.1 3.98E-06
1853 13 L/F 18 rs778377360 0.6385 None gnomAD-4.0.0 1.36824E-06
1853 13 L/P 18 None 0.6385 None gnomAD-4.0.0 3.18144E-06
1853 13 L/V 18 rs778377360 0.6385 None gnomAD-2.1.1 3.98E-06
1853 13 L/V 18 rs778377360 0.6385 None gnomAD-3.1.2 6.57E-06
1853 13 L/V 18 rs778377360 0.6385 None gnomAD-4.0.0 1.23922E-06
1854 14 E/D 23 rs571222694 0.4308 None gnomAD-2.1.1 3.98E-06
1854 14 E/D 23 rs571222694 0.4308 None gnomAD-3.1.2 6.57E-06
1854 14 E/D 23 rs571222694 0.4308 None 1000 genomes 1.99681E-04
1854 14 E/D 23 rs571222694 0.4308 None gnomAD-4.0.0 6.5653E-06
1854 14 E/K 23 rs1443747233 0.4308 None gnomAD-2.1.1 3.98E-06
1854 14 E/K 23 rs1443747233 0.4308 None gnomAD-4.0.0 1.5907E-06
1855 15 G/E 24 rs753507549 0.3174 None gnomAD-2.1.1 3.54E-05
1855 15 G/E 24 rs753507549 0.3174 None gnomAD-3.1.2 1.31E-05
1855 15 G/E 24 rs753507549 0.3174 None gnomAD-4.0.0 1.28071E-05
1856 16 E/K 25 rs1315454944 0.3675 None gnomAD-3.1.2 6.57E-06
1856 16 E/K 25 rs1315454944 0.3675 None gnomAD-4.0.0 1.05332E-05
1857 17 T/N 26 None 0.3569 None gnomAD-4.0.0 1.59067E-06
1859 19 R/M 29 rs777923620 0.4823 None gnomAD-2.1.1 7.96E-06
1859 19 R/M 29 rs777923620 0.4823 None gnomAD-4.0.0 1.59062E-06
1859 19 R/S 29 rs551538420 0.4823 None gnomAD-2.1.1 5.31E-05
1859 19 R/S 29 rs551538420 0.4823 None gnomAD-3.1.2 7.89E-05
1859 19 R/S 29 rs551538420 0.4823 None 1000 genomes 1.99681E-04
1859 19 R/S 29 rs551538420 0.4823 None gnomAD-4.0.0 1.31342E-04
1861 21 R/C 31 rs532733393 0.5264 None gnomAD-2.1.1 6.01E-05
1861 21 R/C 31 rs532733393 0.5264 None gnomAD-3.1.2 3.94E-05
1861 21 R/C 31 rs532733393 0.5264 None 1000 genomes 1.99681E-04
1861 21 R/C 31 rs532733393 0.5264 None gnomAD-4.0.0 3.5935E-05
1861 21 R/H 31 rs140914855 0.5264 None gnomAD-2.1.1 8.49E-05
1861 21 R/H 31 rs140914855 0.5264 None gnomAD-3.1.2 3.29E-05
1861 21 R/H 31 rs140914855 0.5264 None gnomAD-4.0.0 7.99232E-05
1862 22 C/G 33 rs2092215973 0.0905 None gnomAD-4.0.0 1.20032E-06
1862 22 C/S 33 None 0.0905 None gnomAD-4.0.0 1.20032E-06
1863 23 R/K 34 None 0.5615 None gnomAD-4.0.0 2.05225E-06
1863 23 R/S 34 rs763383772 0.5615 None gnomAD-2.1.1 3.98E-06
1864 24 V/I 35 rs2092215067 0.2387 None gnomAD-4.0.0 1.20032E-06
1865 25 T/A 38 rs2092214772 0.4527 None gnomAD-3.1.2 6.57E-06
1865 25 T/A 38 rs2092214772 0.4527 None gnomAD-4.0.0 2.02979E-06
1866 26 G/D 40 rs2092214175 0.3187 None gnomAD-4.0.0 8.20898E-06
1868 28 P/H 42 None 0.3308 None gnomAD-2.1.1 3.98E-06
1868 28 P/H 42 None 0.3308 None gnomAD-4.0.0 1.5906E-06
1868 28 P/L 42 rs773566945 0.3308 None gnomAD-4.0.0 1.5906E-06
1868 28 P/R 42 rs773566945 0.3308 None gnomAD-2.1.1 3.98E-06
1868 28 P/R 42 rs773566945 0.3308 None gnomAD-4.0.0 1.5906E-06
1869 29 Q/K 43 None 0.7654 None gnomAD-4.0.0 1.59055E-06
1869 29 Q/R 43 rs770347404 0.7654 None gnomAD-2.1.1 3.58E-05
1869 29 Q/R 43 rs770347404 0.7654 None gnomAD-3.1.2 1.31E-05
1869 29 Q/R 43 rs770347404 0.7654 None gnomAD-4.0.0 1.66462E-05
1870 30 P/S 44 None 0.1632 None gnomAD-4.0.0 1.20032E-06
1871 31 K/N 45 None 0.4526 None gnomAD-4.0.0 2.40064E-06
1872 32 V/L 46 None 0.2344 None gnomAD-4.0.0 2.40064E-06
1873 33 N/S 47 rs762273184 0.2582 None gnomAD-2.1.1 3.98E-06
1873 33 N/S 47 rs762273184 0.2582 None gnomAD-3.1.2 6.57E-06
1873 33 N/S 47 rs762273184 0.2582 None gnomAD-4.0.0 6.5684E-06
1874 34 W/G 48 rs2092211950 0.1649 None gnomAD-3.1.2 6.57E-06
1874 34 W/G 48 rs2092211950 0.1649 None gnomAD-4.0.0 6.56927E-06
1874 34 W/R 48 None 0.1649 None gnomAD-4.0.0 1.59051E-06
1874 34 W/S 48 None 0.1649 None gnomAD-4.0.0 3.18105E-06
1876 36 L/F 50 rs1419821413 0.1775 None gnomAD-4.0.0 6.84073E-07
1876 36 L/H 50 rs771632040 0.1775 None gnomAD-2.1.1 7.96E-06
1876 36 L/H 50 rs771632040 0.1775 None gnomAD-4.0.0 2.73628E-06
1876 36 L/V 50 rs1419821413 0.1775 None gnomAD-2.1.1 7.96E-06
1876 36 L/V 50 rs1419821413 0.1775 None gnomAD-3.1.2 1.31E-05
1876 36 L/V 50 rs1419821413 0.1775 None gnomAD-4.0.0 3.09784E-06
1877 37 N/I 51 rs1554006798 0.4924 None gnomAD-4.0.0 6.36207E-06
1878 38 G/E 52 rs745311218 0.4517 None gnomAD-2.1.1 1.06E-05
1878 38 G/E 52 rs745311218 0.4517 None gnomAD-3.1.2 1.31E-05
1878 38 G/E 52 rs745311218 0.4517 None gnomAD-4.0.0 1.30108E-05
1879 39 Q/R 55 rs1237628152 0.7346 None gnomAD-2.1.1 3.98E-06
1879 39 Q/R 55 rs1237628152 0.7346 None gnomAD-3.1.2 1.31E-05
1879 39 Q/R 55 rs1237628152 0.7346 None gnomAD-4.0.0 3.84135E-06
1880 40 L/F 56 rs2092208587 0.3907 None gnomAD-4.0.0 1.20032E-06
1881 41 I/T 58 rs1426496038 0.1604 None gnomAD-2.1.1 3.18E-05
1881 41 I/T 58 rs1426496038 0.1604 None gnomAD-3.1.2 1.31E-05
1881 41 I/T 58 rs1426496038 0.1604 None gnomAD-4.0.0 1.3143E-05
1882 42 R/C 59 rs397517658 0.8435 None gnomAD-2.1.1 2.12E-05
1882 42 R/C 59 rs397517658 0.8435 None gnomAD-3.1.2 2.63E-05
1882 42 R/C 59 rs397517658 0.8435 None gnomAD-4.0.0 2.72615E-05
1882 42 R/H 59 rs374605213 0.8435 None gnomAD-2.1.1 6.37E-05
1882 42 R/H 59 rs374605213 0.8435 None gnomAD-3.1.2 1.77424E-04
1882 42 R/H 59 rs374605213 0.8435 None gnomAD-4.0.0 5.20447E-05
1882 42 R/S 59 None 0.8435 None gnomAD-4.0.0 6.84077E-07
1883 43 K/T 70 None 0.8101 None gnomAD-4.0.0 1.20032E-06
1884 44 S/N 73 rs749151809 0.2509 None gnomAD-2.1.1 1.19E-05
1884 44 S/N 73 rs749151809 0.2509 None gnomAD-4.0.0 4.10444E-06
1884 44 S/T 73 rs749151809 0.2509 None gnomAD-2.1.1 3.18E-05
1884 44 S/T 73 rs749151809 0.2509 None gnomAD-3.1.2 1.31E-05
1884 44 S/T 73 rs749151809 0.2509 None gnomAD-4.0.0 1.85871E-06
1889 49 V/F 123 rs141105443 0.3368 None gnomAD-2.1.1 4.6E-05
1889 49 V/F 123 rs141105443 0.3368 None gnomAD-3.1.2 5.26E-05
1889 49 V/F 123 rs141105443 0.3368 None gnomAD-4.0.0 1.20814E-04
1889 49 V/I 123 None 0.3368 None gnomAD-4.0.0 6.8407E-07
1890 50 R/C 125 rs146496197 0.2780 None gnomAD-2.1.1 4.07244E-04
1890 50 R/C 125 rs146496197 0.2780 None gnomAD-3.1.2 1.03209E-03
1890 50 R/C 125 rs146496197 0.2780 None 1000 genomes 5.99042E-04
1890 50 R/C 125 rs146496197 0.2780 None gnomAD-4.0.0 3.25884E-04
1890 50 R/H 125 rs370027329 0.2780 None gnomAD-2.1.1 1.06E-05
1890 50 R/H 125 rs370027329 0.2780 None gnomAD-3.1.2 1.31E-05
1890 50 R/H 125 rs370027329 0.2780 None gnomAD-4.0.0 7.43487E-06
1890 50 R/P 125 rs370027329 0.2780 None gnomAD-2.1.1 3.98E-06
1890 50 R/P 125 rs370027329 0.2780 None gnomAD-4.0.0 6.84068E-07
1891 51 Y/C 127 rs547305291 0.4880 None gnomAD-2.1.1 4.38E-05
1891 51 Y/C 127 rs547305291 0.4880 None gnomAD-3.1.2 3.28E-05
1891 51 Y/C 127 rs547305291 0.4880 None 1000 genomes 5.99042E-04
1891 51 Y/C 127 rs547305291 0.4880 None gnomAD-4.0.0 3.65513E-05
1893 53 G/A 134 None 0.2589 None gnomAD-4.0.0 1.36815E-06
1893 53 G/D 134 None 0.2589 None gnomAD-4.0.0 2.05223E-06
1893 53 G/S 134 rs1380250256 0.2589 None gnomAD-2.1.1 3.98E-06
1893 53 G/S 134 rs1380250256 0.2589 None gnomAD-4.0.0 1.36815E-06
1894 54 I/V 135 rs751529942 0.2318 None gnomAD-2.1.1 7.97E-06
1894 54 I/V 135 rs751529942 0.2318 None gnomAD-4.0.0 6.36215E-06
1895 55 H/P 136 rs766694270 0.2202 None gnomAD-2.1.1 2.79E-05
1895 55 H/P 136 rs766694270 0.2202 None gnomAD-4.0.0 1.11337E-05
1895 55 H/Y 136 rs794729577 0.2202 None gnomAD-2.1.1 7.97E-06
1895 55 H/Y 136 rs794729577 0.2202 None gnomAD-3.1.2 1.31E-05
1895 55 H/Y 136 rs794729577 0.2202 None gnomAD-4.0.0 1.23917E-05
1897 57 L/Q 138 rs1299766514 0.0895 None gnomAD-2.1.1 3.98E-06
1897 57 L/Q 138 rs1299766514 0.0895 None gnomAD-4.0.0 1.5905E-06
1899 59 I/T 140 None 0.1072 None gnomAD-4.0.0 1.20032E-06
1899 59 I/V 140 rs878986033 0.1072 None gnomAD-2.1.1 1.59E-05
1899 59 I/V 140 rs878986033 0.1072 None gnomAD-3.1.2 2.63E-05
1899 59 I/V 140 rs878986033 0.1072 None gnomAD-4.0.0 4.33691E-06
1900 60 V/G 141 rs878931921 0.2764 None gnomAD-4.0.0 1.20032E-06
1900 60 V/L 141 None 0.2764 None gnomAD-4.0.0 1.02611E-05
1900 60 V/M 141 rs750823043 0.2764 None gnomAD-2.1.1 2.48E-05
1900 60 V/M 141 rs750823043 0.2764 None gnomAD-3.1.2 3.29E-05
1900 60 V/M 141 rs750823043 0.2764 None gnomAD-4.0.0 2.47831E-05
1901 61 D/G 143 rs1414147349 0.4773 None gnomAD-2.1.1 7.97E-06
1901 61 D/G 143 rs1414147349 0.4773 None gnomAD-3.1.2 1.31E-05
1901 61 D/G 143 rs1414147349 0.4773 None gnomAD-4.0.0 9.29337E-06
1901 61 D/N 143 None 0.4773 None gnomAD-4.0.0 1.5905E-06
1905 65 Y/C 148 rs1265838947 0.5083 None gnomAD-2.1.1 3.98E-06
1905 65 Y/C 148 rs1265838947 0.5083 None gnomAD-4.0.0 1.59051E-06
1905 65 Y/H 148 rs1477069650 0.5083 None gnomAD-2.1.1 3.98E-06
1905 65 Y/H 148 rs1477069650 0.5083 None gnomAD-4.0.0 2.53106E-05
1906 66 D/V 149 rs1490334415 0.1347 None gnomAD-2.1.1 3.98E-06
1906 66 D/V 149 rs1490334415 0.1347 None gnomAD-4.0.0 1.59052E-06
1906 66 D/Y 149 rs1194783923 0.1347 None gnomAD-2.1.1 3.98E-06
1906 66 D/Y 149 rs1194783923 0.1347 None gnomAD-4.0.0 1.59052E-06
1907 67 T/I 151 None 0.3441 None gnomAD-4.0.0 1.20032E-06
1908 68 G/D 152 None 0.2515 None gnomAD-4.0.0 3.60097E-06
1908 68 G/R 152 None 0.2515 None gnomAD-4.0.0 6.84069E-07
1908 68 G/S 152 rs964474432 0.2515 None gnomAD-3.1.2 1.31E-05
1908 68 G/S 152 rs964474432 0.2515 None gnomAD-4.0.0 4.95651E-06
1910 70 V/A 154 rs1322379803 0.1072 None gnomAD-2.1.1 3.98E-06
1910 70 V/A 154 rs1322379803 0.1072 None gnomAD-4.0.0 6.84075E-07
1910 70 V/E 154 None 0.1072 None gnomAD-4.0.0 6.84075E-07
1910 70 V/L 154 rs765618372 0.1072 None gnomAD-2.1.1 3.98E-06
1910 70 V/L 154 rs765618372 0.1072 None gnomAD-4.0.0 1.59052E-06
1910 70 V/M 154 rs765618372 0.1072 None gnomAD-2.1.1 3.98E-06
1910 70 V/M 154 rs765618372 0.1072 None gnomAD-4.0.0 3.18104E-06
1911 71 K/T 155 rs1473622038 0.1537 None gnomAD-3.1.2 6.57E-06
1911 71 K/T 155 rs1473622038 0.1537 None gnomAD-4.0.0 6.56978E-06
1913 73 T/I 157 None 0.1672 None gnomAD-4.0.0 1.59052E-06
1913 73 T/N 157 rs1306092689 0.1672 None gnomAD-2.1.1 3.19E-05
1913 73 T/N 157 rs1306092689 0.1672 None gnomAD-3.1.2 6.57E-06
1913 73 T/N 157 rs1306092689 0.1672 None gnomAD-4.0.0 6.57333E-06
1913 73 T/S 157 rs1306092689 0.1672 None gnomAD-3.1.2 6.57E-06
1913 73 T/S 157 rs1306092689 0.1672 None gnomAD-4.0.0 6.57333E-06
1914 74 A/T 158 rs118161093 0.1028 None gnomAD-2.1.1 1.38036E-04
1914 74 A/T 158 rs118161093 0.1028 None gnomAD-3.1.2 7.23E-05
1914 74 A/T 158 rs118161093 0.1028 None 1000 genomes 3.99361E-04
1914 74 A/T 158 rs118161093 0.1028 None gnomAD-4.0.0 5.01811E-05
1914 74 A/V 158 rs374203813 0.1028 None gnomAD-2.1.1 3.58E-05
1914 74 A/V 158 rs374203813 0.1028 None gnomAD-3.1.2 3.29E-05
1914 74 A/V 158 rs374203813 0.1028 None 1000 genomes 1.99681E-04
1914 74 A/V 158 rs374203813 0.1028 None gnomAD-4.0.0 2.29239E-05
1915 75 E/K 159 rs375388374 0.3344 None gnomAD-2.1.1 7.96E-06
1915 75 E/K 159 rs375388374 0.3344 None gnomAD-3.1.2 6.57E-06
1915 75 E/K 159 rs375388374 0.3344 None gnomAD-4.0.0 2.56104E-06
1917 77 P/T 162 None 0.5670 None gnomAD-4.0.0 1.20032E-06
1919 79 G/D 164 None 0.2642 None gnomAD-4.0.0 6.36207E-06
1920 80 V/M 165 rs773719613 0.5070 None gnomAD-2.1.1 3.98E-06
1921 81 I/V 166 rs879100565 0.2124 None gnomAD-2.1.1 7.08E-06
1921 81 I/V 166 rs879100565 0.2124 None gnomAD-3.1.2 1.31E-05
1921 81 I/V 166 rs879100565 0.2124 None gnomAD-4.0.0 1.54892E-05
1922 82 E/K 168 None 0.3984 None gnomAD-4.0.0 6.84071E-07
1922 82 E/Q 168 rs1349924695 0.3984 None gnomAD-2.1.1 3.98E-06
1922 82 E/Q 168 rs1349924695 0.3984 None gnomAD-4.0.0 6.84071E-07
1923 83 H/Q 169 None 0.3093 None gnomAD-4.0.0 1.36814E-06
1923 83 H/R 169 None 0.3093 None gnomAD-4.0.0 3.18103E-06
1923 83 H/Y 169 None 0.3093 None gnomAD-4.0.0 1.59051E-06
1924 84 K/E 171 rs1327562179 0.3495 None gnomAD-2.1.1 7.96E-06
1924 84 K/E 171 rs1327562179 0.3495 None gnomAD-4.0.0 3.42034E-06
1924 84 K/N 171 None 0.3495 None gnomAD-4.0.0 1.5905E-06
1925 85 V/A 172 None 0.1282 None gnomAD-4.0.0 3.18102E-06
1925 85 V/M 172 None 0.1282 None gnomAD-4.0.0 1.20032E-06
1927 87 L/P 174 None 0.1134 None gnomAD-4.0.0 1.59049E-06
1929 89 I/F 177 rs748917796 0.1526 None gnomAD-2.1.1 1.19E-05
1929 89 I/F 177 rs748917796 0.1526 None gnomAD-4.0.0 9.57695E-06
1929 89 I/T 177 None 0.1526 None gnomAD-4.0.0 1.20032E-06