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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1703 1 P/L 1 None 0.1849 None gnomAD-4.0.0 1.20032E-06
1703 1 P/T 1 rs898070344 0.1849 None gnomAD-4.0.0 3.18127E-06
1705 3 F/L 3 rs375828531 0.0963 None gnomAD-2.1.1 3.99E-06
1705 3 F/L 3 rs375828531 0.0963 None gnomAD-4.0.0 1.57342E-05
1706 4 K/E 4 None 0.7781 None gnomAD-4.0.0 1.08029E-05
1707 5 K/E 5 None 0.3361 None gnomAD-4.0.0 6.84092E-07
1707 5 K/R 5 None 0.3361 None gnomAD-4.0.0 1.20032E-06
1710 8 T/A 9 None 0.7673 None gnomAD-4.0.0 1.36819E-06
1710 8 T/P 9 rs1331457473 0.7673 None gnomAD-2.1.1 3.99E-06
1710 8 T/P 9 rs1331457473 0.7673 None gnomAD-4.0.0 6.84097E-07
1710 8 T/S 9 None 0.7673 None gnomAD-4.0.0 1.36819E-06
1711 9 S/F 11 rs397517641 0.3816 None gnomAD-2.1.1 1.06E-05
1711 9 S/F 11 rs397517641 0.3816 None gnomAD-3.1.2 5.26E-05
1711 9 S/F 11 rs397517641 0.3816 None gnomAD-4.0.0 1.05323E-05
1711 9 S/P 11 None 0.3816 None gnomAD-4.0.0 1.59066E-06
1713 11 R/K 14 rs890589931 0.5240 None gnomAD-3.1.2 6.57E-06
1713 11 R/K 14 rs890589931 0.5240 None gnomAD-4.0.0 1.92076E-05
1714 12 L/F 16 rs2092264988 0.1815 None gnomAD-3.1.2 6.57E-06
1714 12 L/F 16 rs2092264988 0.1815 None gnomAD-4.0.0 2.56119E-06
1714 12 L/H 16 rs750997358 0.1815 None gnomAD-2.1.1 3.99E-06
1714 12 L/H 16 rs750997358 0.1815 None gnomAD-3.1.2 6.57E-06
1714 12 L/H 16 rs750997358 0.1815 None gnomAD-4.0.0 6.57039E-06
1716 14 R/C 23 rs779424493 0.4089 None gnomAD-2.1.1 1.6E-05
1716 14 R/C 23 rs779424493 0.4089 None gnomAD-3.1.2 6.57E-06
1716 14 R/C 23 rs779424493 0.4089 None gnomAD-4.0.0 6.81556E-06
1716 14 R/H 23 rs771659260 0.4089 None gnomAD-2.1.1 4.39E-05
1716 14 R/H 23 rs771659260 0.4089 None gnomAD-3.1.2 3.29E-05
1716 14 R/H 23 rs771659260 0.4089 None gnomAD-4.0.0 2.47839E-05
1716 14 R/P 23 None 0.4089 None gnomAD-4.0.0 6.84107E-07
1718 16 G/E 25 rs1421424286 0.2389 None gnomAD-2.1.1 3.99E-06
1718 16 G/E 25 rs1421424286 0.2389 None gnomAD-4.0.0 1.5907E-06
1718 16 G/R 25 None 0.2389 None gnomAD-4.0.0 1.59067E-06
1719 17 P/L 26 None 0.6724 None gnomAD-4.0.0 1.59067E-06
1719 17 P/S 26 rs1381415747 0.6724 None gnomAD-2.1.1 3.99E-06
1719 17 P/S 26 rs1381415747 0.6724 None gnomAD-4.0.0 1.3682E-06
1720 18 A/T 28 rs1183072143 0.1299 None gnomAD-2.1.1 7.09E-06
1720 18 A/T 28 rs1183072143 0.1299 None gnomAD-3.1.2 1.31E-05
1720 18 A/T 28 rs1183072143 0.1299 None gnomAD-4.0.0 3.09791E-06
1721 19 H/R 29 rs1460034754 0.3944 None gnomAD-2.1.1 3.99E-06
1721 19 H/R 29 rs1460034754 0.3944 None gnomAD-4.0.0 2.7364E-06
1723 21 E/Q 31 rs2092262638 0.2905 None gnomAD-4.0.0 1.59067E-06
1725 23 R/S 34 None 0.3144 None gnomAD-4.0.0 1.59066E-06
1726 24 L/V 35 rs2092262370 0.1533 None gnomAD-3.1.2 6.57E-06
1726 24 L/V 35 rs2092262370 0.1533 None gnomAD-4.0.0 2.02974E-06
1727 25 T/I 36 rs2154346254 0.2911 None gnomAD-4.0.0 2.05229E-06
1728 26 P/L 37 rs371837040 0.4567 None gnomAD-2.1.1 3.18E-05
1728 26 P/L 37 rs371837040 0.4567 None gnomAD-3.1.2 6.57E-06
1728 26 P/L 37 rs371837040 0.4567 None gnomAD-4.0.0 3.84214E-06
1729 27 I/F 38 rs752183514 0.6402 None gnomAD-2.1.1 3.99E-06
1729 27 I/F 38 rs752183514 0.6402 None gnomAD-4.0.0 6.84095E-07
1729 27 I/L 38 None 0.6402 None gnomAD-2.1.1 3.99E-06
1729 27 I/L 38 None 0.6402 None gnomAD-4.0.0 2.73638E-06
1729 27 I/T 38 rs1201228065 0.6402 None gnomAD-2.1.1 1.99E-05
1729 27 I/T 38 rs1201228065 0.6402 None gnomAD-4.0.0 8.20914E-06
1729 27 I/V 38 rs752183514 0.6402 None gnomAD-2.1.1 3.99E-06
1729 27 I/V 38 rs752183514 0.6402 None gnomAD-4.0.0 5.47276E-06
1730 28 G/D 40 rs1485641698 0.6043 None gnomAD-2.1.1 3.99E-06
1730 28 G/D 40 rs1485641698 0.6043 None gnomAD-3.1.2 6.57E-06
1730 28 G/D 40 rs1485641698 0.6043 None gnomAD-4.0.0 6.57022E-06
1731 29 D/G 41 rs876658072 0.2284 None gnomAD-2.1.1 3.18E-05
1731 29 D/G 41 rs876658072 0.2284 None gnomAD-4.0.0 4.7719E-06
1732 30 P/S 42 rs1375104988 0.7060 None gnomAD-2.1.1 3.18E-05
1732 30 P/S 42 rs1375104988 0.7060 None gnomAD-3.1.2 6.57E-06
1732 30 P/S 42 rs1375104988 0.7060 None gnomAD-4.0.0 6.57082E-06
1733 31 T/A 43 rs759175898 0.2921 None gnomAD-2.1.1 1.2E-05
1733 31 T/A 43 rs759175898 0.2921 None gnomAD-4.0.0 4.78868E-06
1733 31 T/K 43 rs367700246 0.2921 None gnomAD-2.1.1 3.99E-06
1733 31 T/K 43 rs367700246 0.2921 None gnomAD-4.0.0 6.84097E-07
1733 31 T/M 43 rs367700246 0.2921 None gnomAD-2.1.1 2.7641E-04
1733 31 T/M 43 rs367700246 0.2921 None gnomAD-3.1.2 1.31408E-04
1733 31 T/M 43 rs367700246 0.2921 None gnomAD-4.0.0 1.3507E-04
1734 32 M/T 44 rs1379908886 0.1756 None gnomAD-2.1.1 3.99E-06
1734 32 M/T 44 rs1379908886 0.1756 None gnomAD-4.0.0 7.52501E-06
1734 32 M/V 44 None 0.1756 None gnomAD-4.0.0 1.36818E-06
1736 34 V/M 46 rs2092259333 0.2892 None gnomAD-3.1.2 6.57E-06
1736 34 V/M 46 rs2092259333 0.2892 None gnomAD-4.0.0 6.56875E-06
1737 35 E/D 47 None 0.2936 None gnomAD-4.0.0 1.59066E-06
1737 35 E/G 47 rs766132240 0.2936 None gnomAD-2.1.1 3.99E-06
1737 35 E/G 47 rs766132240 0.2936 None gnomAD-3.1.2 6.57E-06
1737 35 E/G 47 rs766132240 0.2936 None gnomAD-4.0.0 2.56119E-06
1739 37 L/F 49 rs762699336 0.1335 None gnomAD-2.1.1 7.97E-06
1739 37 L/F 49 rs762699336 0.1335 None gnomAD-4.0.0 3.18136E-06
1740 38 H/R 50 rs773048437 0.4426 None gnomAD-2.1.1 1.6E-05
1740 38 H/R 50 rs773048437 0.4426 None gnomAD-4.0.0 1.23141E-05
1741 39 D/G 51 rs376751465 0.5631 None gnomAD-2.1.1 3.99E-06
1741 39 D/G 51 rs376751465 0.5631 None gnomAD-3.1.2 6.57E-06
1741 39 D/G 51 rs376751465 0.5631 None gnomAD-4.0.0 6.56901E-06
1741 39 D/V 51 None 0.5631 None gnomAD-4.0.0 1.20032E-06
1742 40 G/A 52 None 0.4400 None gnomAD-4.0.0 1.59067E-06
1742 40 G/R 52 None 0.4400 None gnomAD-4.0.0 2.40064E-06
1744 42 P/L 56 rs75686037 0.6111 None gnomAD-2.1.1 6.73712E-03
1744 42 P/L 56 rs75686037 0.6111 None gnomAD-3.1.2 2.37911E-03
1744 42 P/L 56 rs75686037 0.6111 None 1000 genomes 6.98882E-03
1744 42 P/L 56 rs75686037 0.6111 None gnomAD-4.0.0 1.99004E-03
1744 42 P/S 56 rs761807419 0.6111 None gnomAD-2.1.1 3.99E-06
1744 42 P/S 56 rs761807419 0.6111 None gnomAD-4.0.0 1.2314E-05
1745 43 L/F 58 rs1405428231 0.2630 None gnomAD-2.1.1 3.18E-05
1745 43 L/F 58 rs1405428231 0.2630 None gnomAD-3.1.2 6.57E-06
1745 43 L/F 58 rs1405428231 0.2630 None gnomAD-4.0.0 6.56953E-06
1745 43 L/P 58 None 0.2630 None gnomAD-4.0.0 5.47283E-06
1747 45 A/T 70 rs935944166 0.7881 None gnomAD-2.1.1 3.99E-06
1747 45 A/T 70 rs935944166 0.7881 None gnomAD-3.1.2 6.57E-06
1747 45 A/T 70 rs935944166 0.7881 None gnomAD-4.0.0 4.33709E-06
1749 47 N/K 111 None 1.1598 None gnomAD-4.0.0 1.20032E-06
1749 47 N/S 111 rs1304904777 1.1598 None gnomAD-3.1.2 6.57E-06
1749 47 N/S 111 rs1304904777 1.1598 None gnomAD-4.0.0 6.56883E-06
1750 48 R/S 115 rs924534786 0.2062 None gnomAD-3.1.2 6.57E-06
1750 48 R/S 115 rs924534786 0.2062 None gnomAD-4.0.0 6.5703E-06
1751 49 L/F 121 rs1234295408 0.1798 None gnomAD-3.1.2 6.57E-06
1751 49 L/F 121 rs1234295408 0.1798 None gnomAD-4.0.0 6.57082E-06
1752 50 R/C 122 rs1259833413 0.6938 None gnomAD-2.1.1 7.98E-06
1752 50 R/C 122 rs1259833413 0.6938 None gnomAD-3.1.2 6.57E-06
1752 50 R/C 122 rs1259833413 0.6938 None gnomAD-4.0.0 5.57664E-06
1752 50 R/H 122 rs150737838 0.6938 None gnomAD-2.1.1 1.63017E-04
1752 50 R/H 122 rs150737838 0.6938 None gnomAD-3.1.2 5.26E-05
1752 50 R/H 122 rs150737838 0.6938 None 1000 genomes 1.99681E-04
1752 50 R/H 122 rs150737838 0.6938 None gnomAD-4.0.0 4.46082E-05
1753 51 M/I 123 rs747692832 0.3266 None gnomAD-4.0.0 3.0008E-05
1753 51 M/V 123 None 0.3266 None gnomAD-4.0.0 4.77218E-06
1754 52 I/F 125 rs780379544 0.3173 None gnomAD-2.1.1 3.99E-06
1754 52 I/F 125 rs780379544 0.3173 None gnomAD-4.0.0 6.84116E-07
1754 52 I/N 125 None 0.3173 None gnomAD-4.0.0 1.59077E-06
1754 52 I/V 125 rs780379544 0.3173 None gnomAD-2.1.1 7.98E-06
1754 52 I/V 125 rs780379544 0.3173 None gnomAD-4.0.0 2.05235E-06
1755 53 N/D 127 None 0.5233 None gnomAD-4.0.0 1.59077E-06
1755 53 N/H 127 rs559024675 0.5233 None gnomAD-2.1.1 3.99E-06
1755 53 N/H 127 rs559024675 0.5233 None gnomAD-3.1.2 6.57E-06
1755 53 N/H 127 rs559024675 0.5233 None 1000 genomes 1.99681E-04
1755 53 N/H 127 rs559024675 0.5233 None gnomAD-4.0.0 6.56478E-06
1755 53 N/S 127 rs201904897 0.5233 None gnomAD-2.1.1 4.25E-05
1755 53 N/S 127 rs201904897 0.5233 None gnomAD-3.1.2 3.94E-05
1755 53 N/S 127 rs201904897 0.5233 None 1000 genomes 1.99681E-04
1755 53 N/S 127 rs201904897 0.5233 None gnomAD-4.0.0 5.32817E-05
1758 56 G/A 134 None 0.1985 None gnomAD-4.0.0 2.05246E-06
1760 58 C/F 136 None 0.1030 None gnomAD-4.0.0 6.8421E-07
1760 58 C/Y 136 None 0.1030 None gnomAD-4.0.0 6.8421E-07
1761 59 S/R 137 rs1187984311 0.0924 None gnomAD-2.1.1 3.18E-05
1761 59 S/R 137 rs1187984311 0.0924 None gnomAD-3.1.2 6.57E-06
1761 59 S/R 137 rs1187984311 0.0924 None gnomAD-4.0.0 1.36849E-06
1763 61 D/E 139 rs1325498080 0.2513 None gnomAD-2.1.1 7.98E-06
1763 61 D/E 139 rs1325498080 0.2513 None gnomAD-4.0.0 6.36653E-06
1765 63 G/A 141 None 0.3803 None gnomAD-4.0.0 6.84403E-07
1765 63 G/D 141 rs2092251339 0.3803 None gnomAD-3.1.2 6.57E-06
1765 63 G/D 141 rs2092251339 0.3803 None gnomAD-4.0.0 1.2397E-06
1765 63 G/R 141 None 0.3803 None gnomAD-4.0.0 1.20032E-06
1766 64 V/F 143 None 0.3629 None gnomAD-4.0.0 6.84445E-07
1766 64 V/I 143 rs149494502 0.3629 None gnomAD-2.1.1 4.97E-05
1766 64 V/I 143 rs149494502 0.3629 None gnomAD-3.1.2 4.6E-05
1766 64 V/I 143 rs149494502 0.3629 None gnomAD-4.0.0 3.53344E-05
1768 66 Y/C 145 rs2092250294 0.3334 None gnomAD-4.0.0 1.59333E-06
1769 67 S/P 146 None 0.4075 None gnomAD-4.0.0 1.59371E-06
1770 68 R/G 148 rs780733773 0.4882 None gnomAD-2.1.1 2.8E-05
1770 68 R/G 148 rs780733773 0.4882 None gnomAD-4.0.0 1.16412E-05
1772 70 S/G 151 rs150725992 0.2825 None gnomAD-2.1.1 1.03114E-04
1772 70 S/G 151 rs150725992 0.2825 None gnomAD-3.1.2 8.54E-05
1772 70 S/G 151 rs150725992 0.2825 None gnomAD-4.0.0 1.6252E-04
1773 71 G/C 152 rs751246824 0.2121 None gnomAD-2.1.1 4.01E-06
1773 71 G/C 152 rs751246824 0.2121 None gnomAD-4.0.0 1.59626E-06
1773 71 G/S 152 rs751246824 0.2121 None gnomAD-4.0.0 1.59626E-06
1774 72 I/V 153 rs758207512 0.5942 None gnomAD-4.0.0 1.20032E-06
1777 75 C/F 156 None 0.0678 None gnomAD-4.0.0 1.59922E-06
1777 75 C/R 156 rs2092247232 0.0678 None gnomAD-4.0.0 6.85596E-07
1778 76 R/K 157 None 0.3354 None gnomAD-4.0.0 1.60005E-06
1779 77 A/V 158 rs1335516732 0.0824 None gnomAD-2.1.1 3.18E-05
1779 77 A/V 158 rs1335516732 0.0824 None gnomAD-3.1.2 6.57E-06
1780 78 T/I 159 None 0.2990 None gnomAD-4.0.0 1.60137E-06
1782 80 K/R 162 None 0.3234 None gnomAD-4.0.0 2.40064E-06
1783 81 Y/C 163 None 0.7292 None gnomAD-4.0.0 1.60245E-06
1785 83 T/I 165 rs397517649 0.3955 None gnomAD-2.1.1 4.04E-06
1785 83 T/I 165 rs397517649 0.3955 None gnomAD-4.0.0 6.86515E-07
1785 83 T/R 165 rs397517649 0.3955 None gnomAD-2.1.1 4.04E-06
1785 83 T/R 165 rs397517649 0.3955 None gnomAD-3.1.2 6.57E-06
1785 83 T/R 165 rs397517649 0.3955 None gnomAD-4.0.0 3.10791E-06
1786 84 D/E 166 None 0.2178 None gnomAD-4.0.0 6.86608E-07
1786 84 D/N 166 None 0.2178 None gnomAD-4.0.0 1.37311E-06
1787 85 H/Y 168 rs2092244300 0.6601 None gnomAD-3.1.2 6.57E-06
1787 85 H/Y 168 rs2092244300 0.6601 None gnomAD-4.0.0 6.5716E-06
1788 86 T/I 169 rs760787459 0.0913 None gnomAD-2.1.1 4.04E-06
1788 86 T/I 169 rs760787459 0.0913 None gnomAD-4.0.0 4.12045E-06
1789 87 S/F 171 rs2092243043 0.4054 None gnomAD-4.0.0 3.21046E-06
1789 87 S/P 171 rs775865795 0.4054 None gnomAD-2.1.1 4.04E-06
1791 89 T/I 173 rs1393058360 0.3710 None gnomAD-3.1.2 6.57E-06
1791 89 T/I 173 rs1393058360 0.3710 None gnomAD-4.0.0 6.57307E-06
1792 90 L/P 174 None 0.1050 None gnomAD-4.0.0 1.60571E-06
1792 90 L/R 174 None 0.1050 None gnomAD-4.0.0 1.60571E-06
1793 91 I/F 175 None 0.2865 None gnomAD-4.0.0 1.20032E-06
1793 91 I/T 175 rs746284395 0.2865 None gnomAD-2.1.1 1.62E-05
1793 91 I/T 175 rs746284395 0.2865 None gnomAD-3.1.2 6.57E-06
1793 91 I/T 175 rs746284395 0.2865 None gnomAD-4.0.0 1.05716E-05
1794 92 V/A 178 rs774766261 0.1291 None gnomAD-2.1.1 1.62E-05
1794 92 V/A 178 rs774766261 0.1291 None gnomAD-4.0.0 1.12418E-05