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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26780 1 P/L 1 rs771965424 0.4668 None gnomAD-2.1.1 4.03E-06
26780 1 P/L 1 rs771965424 0.4668 None gnomAD-4.0.0 3.18326E-06
26780 1 P/S 1 rs775149188 0.4668 None gnomAD-2.1.1 3.19E-05
26780 1 P/T 1 rs775149188 0.4668 None gnomAD-2.1.1 8.05E-06
26780 1 P/T 1 rs775149188 0.4668 None gnomAD-4.0.0 4.10566E-06
26783 4 P/S 4 None 0.2865 None gnomAD-4.0.0 1.59167E-06
26784 5 P/L 5 None 0.1140 None gnomAD-4.0.0 6.84287E-07
26784 5 P/R 5 rs1553584164 0.1140 None gnomAD-4.0.0 1.36857E-06
26784 5 P/S 5 rs1705592844 0.1140 None gnomAD-3.1.2 6.58E-06
26784 5 P/S 5 rs1705592844 0.1140 None gnomAD-4.0.0 6.57549E-06
26785 6 G/A 6 None 0.1597 None gnomAD-4.0.0 1.20032E-06
26785 6 G/R 6 None 0.1597 None gnomAD-4.0.0 4.10571E-06
26786 7 K/N 7 rs530566362 0.6677 None 1000 genomes 1.99681E-04
26787 8 V/F 9 None 0.1524 None gnomAD-4.0.0 1.20032E-06
26787 8 V/I 9 None 0.1524 None gnomAD-4.0.0 1.20032E-06
26789 10 L/F 12 rs1403788853 0.2951 None gnomAD-4.0.0 2.05286E-06
26790 11 T/I 13 rs1023059265 0.3563 None gnomAD-4.0.0 1.59167E-06
26791 12 D/E 14 rs749401230 0.4869 None gnomAD-2.1.1 1.07E-05
26791 12 D/E 14 rs749401230 0.4869 None gnomAD-3.1.2 3.29E-05
26791 12 D/E 14 rs749401230 0.4869 None gnomAD-4.0.0 4.33841E-06
26791 12 D/G 14 None 0.4869 None gnomAD-4.0.0 1.59171E-06
26791 12 D/H 14 None 0.4869 None gnomAD-4.0.0 1.20032E-06
26792 13 V/G 15 None 0.1055 None gnomAD-4.0.0 1.20032E-06
26792 13 V/M 15 rs1459115482 0.1055 None gnomAD-2.1.1 4.03E-06
26792 13 V/M 15 rs1459115482 0.1055 None gnomAD-4.0.0 3.18341E-06
26793 14 S/A 16 rs960039859 0.1794 None gnomAD-2.1.1 3.18E-05
26793 14 S/A 16 rs960039859 0.1794 None gnomAD-3.1.2 1.97E-05
26793 14 S/A 16 rs960039859 0.1794 None gnomAD-4.0.0 1.9727E-05
26795 16 T/A 18 None 0.4707 None gnomAD-4.0.0 1.5917E-06
26795 16 T/I 18 rs777780923 0.4707 None gnomAD-4.0.0 1.59169E-06
26796 17 S/G 19 None 0.1963 None gnomAD-4.0.0 1.20032E-06
26796 17 S/N 19 None 0.1963 None gnomAD-4.0.0 1.20032E-06
26796 17 S/R 19 rs1651639361 0.1963 None gnomAD-4.0.0 6.84292E-07
26796 17 S/T 19 rs1296203186 0.1963 None gnomAD-3.1.2 6.57E-06
26796 17 S/T 19 rs1296203186 0.1963 None gnomAD-4.0.0 1.82703E-05
26799 20 L/F 22 rs781537985 0.1287 None gnomAD-2.1.1 4.03E-06
26799 20 L/F 22 rs781537985 0.1287 None gnomAD-4.0.0 1.59169E-06
26799 20 L/R 22 rs1236098527 0.1287 None gnomAD-2.1.1 4.03E-06
26799 20 L/R 22 rs1236098527 0.1287 None gnomAD-4.0.0 6.1586E-06
26800 21 M/K 23 None 0.4325 None gnomAD-4.0.0 6.84288E-07
26800 21 M/L 23 None 0.4325 None gnomAD-4.0.0 6.8429E-07
26800 21 M/T 23 rs761384994 0.4325 None gnomAD-2.1.1 1.61E-05
26800 21 M/T 23 rs761384994 0.4325 None gnomAD-3.1.2 6.58E-06
26800 21 M/T 23 rs761384994 0.4325 None gnomAD-4.0.0 2.54113E-05
26800 21 M/V 23 None 0.4325 None gnomAD-4.0.0 3.42145E-06
26801 22 W/R 24 None 0.1121 None gnomAD-4.0.0 1.59168E-06
26802 23 E/A 25 rs201632545 0.4468 None gnomAD-2.1.1 4.03E-06
26802 23 E/A 25 rs201632545 0.4468 None gnomAD-4.0.0 6.84285E-07
26802 23 E/G 25 rs201632545 0.4468 None gnomAD-2.1.1 2.93268E-04
26802 23 E/G 25 rs201632545 0.4468 None gnomAD-3.1.2 1.57845E-04
26802 23 E/G 25 rs201632545 0.4468 None gnomAD-4.0.0 1.07845E-04
26802 23 E/K 25 None 0.4468 None gnomAD-4.0.0 1.36857E-06
26804 25 P/R 27 rs1299301898 0.1535 None gnomAD-2.1.1 4.03E-06
26804 25 P/R 27 rs1299301898 0.1535 None gnomAD-4.0.0 1.59166E-06
26804 25 P/T 27 None 0.1535 None gnomAD-4.0.0 1.20032E-06
26805 26 E/A 28 rs370095455 0.8794 None gnomAD-2.1.1 2.5E-05
26805 26 E/A 28 rs370095455 0.8794 None gnomAD-3.1.2 1.32E-05
26805 26 E/A 28 rs370095455 0.8794 None gnomAD-4.0.0 4.58638E-05
26805 26 E/Q 28 None 0.8794 None gnomAD-4.0.0 6.00162E-06
26806 27 H/R 29 rs181766682 0.7415 None gnomAD-2.1.1 5.36E-05
26806 27 H/R 29 rs181766682 0.7415 None gnomAD-3.1.2 1.57768E-04
26806 27 H/R 29 rs181766682 0.7415 None 1000 genomes 7.98722E-04
26806 27 H/R 29 rs181766682 0.7415 None gnomAD-4.0.0 3.78027E-05
26807 28 D/Y 30 rs1575674850 0.3245 None gnomAD-4.0.0 1.36855E-06
26809 30 G/D 32 rs532522359 0.6604 None gnomAD-2.1.1 2.82E-05
26809 30 G/D 32 rs532522359 0.6604 None gnomAD-3.1.2 1.97E-05
26809 30 G/D 32 rs532522359 0.6604 None 1000 genomes 1.99681E-04
26809 30 G/D 32 rs532522359 0.6604 None gnomAD-4.0.0 1.92115E-05
26809 30 G/R 32 rs369941201 0.6604 None gnomAD-4.0.0 6.84279E-07
26809 30 G/S 32 rs369941201 0.6604 None gnomAD-2.1.1 2.50374E-04
26809 30 G/S 32 rs369941201 0.6604 None gnomAD-3.1.2 3.09076E-04
26809 30 G/S 32 rs369941201 0.6604 None gnomAD-4.0.0 7.48702E-04
26810 31 S/N 33 rs771880739 0.2515 None gnomAD-2.1.1 8.06E-06
26810 31 S/N 33 rs771880739 0.2515 None gnomAD-3.1.2 6.57E-06
26810 31 S/N 33 rs771880739 0.2515 None gnomAD-4.0.0 2.56272E-06
26810 31 S/R 33 None 0.2515 None gnomAD-4.0.0 1.5916E-06
26812 33 V/I 35 None 0.2219 None gnomAD-4.0.0 1.20032E-06
26814 35 G/A 37 None 0.0713 None gnomAD-4.0.0 6.84272E-07
26814 35 G/E 37 None 0.0713 None gnomAD-4.0.0 1.36854E-06
26814 35 G/V 37 rs1444150832 0.0713 None gnomAD-2.1.1 6.37E-05
26814 35 G/V 37 rs1444150832 0.0713 None gnomAD-3.1.2 1.32E-05
26814 35 G/V 37 rs1444150832 0.0713 None gnomAD-4.0.0 1.85935E-06
26815 36 Y/D 38 None 0.1178 None gnomAD-4.0.0 1.20032E-06
26816 37 V/A 39 rs1177780119 0.1552 None gnomAD-2.1.1 1.61E-05
26816 37 V/A 39 rs1177780119 0.1552 None gnomAD-4.0.0 1.1141E-05
26816 37 V/I 39 rs774092000 0.1552 None gnomAD-2.1.1 3.63E-05
26816 37 V/I 39 rs774092000 0.1552 None gnomAD-3.1.2 6.58E-06
26816 37 V/I 39 rs774092000 0.1552 None gnomAD-4.0.0 1.42548E-05
26817 38 V/A 40 rs1559343682 0.1111 None gnomAD-4.0.0 1.59157E-06
26817 38 V/F 40 rs1367929877 0.1111 None gnomAD-3.1.2 6.57E-06
26817 38 V/F 40 rs1367929877 0.1111 None gnomAD-4.0.0 6.57445E-06
26818 39 E/D 41 rs771164870 0.1385 None gnomAD-2.1.1 4.03E-06
26818 39 E/D 41 rs771164870 0.1385 None gnomAD-4.0.0 1.59158E-06
26819 40 M/I 42 rs749446343 0.1309 None gnomAD-2.1.1 2.5E-05
26819 40 M/I 42 rs749446343 0.1309 None gnomAD-3.1.2 1.97E-05
26819 40 M/I 42 rs749446343 0.1309 None gnomAD-4.0.0 2.69098E-05
26819 40 M/L 42 rs1705523531 0.1309 None gnomAD-4.0.0 1.59158E-06
26820 41 Q/K 43 None 0.1464 None gnomAD-4.0.0 1.20032E-06
26821 42 P/L 44 rs200489046 0.2624 None gnomAD-2.1.1 8.46E-05
26821 42 P/L 44 rs200489046 0.2624 None gnomAD-3.1.2 8.56E-05
26821 42 P/L 44 rs200489046 0.2624 None gnomAD-4.0.0 1.88417E-04
26821 42 P/S 44 rs560861418 0.2624 None gnomAD-2.1.1 4.03E-06
26821 42 P/S 44 rs560861418 0.2624 None gnomAD-3.1.2 6.58E-06
26821 42 P/S 44 rs560861418 0.2624 None 1000 genomes 1.99681E-04
26821 42 P/S 44 rs560861418 0.2624 None gnomAD-4.0.0 3.71853E-06
26823 44 G/A 51 rs114071241 0.6844 None gnomAD-2.1.1 1.21E-05
26823 44 G/A 51 rs114071241 0.6844 None gnomAD-3.1.2 1.97E-05
26823 44 G/A 51 rs114071241 0.6844 None 1000 genomes 3.99361E-04
26823 44 G/A 51 rs114071241 0.6844 None gnomAD-4.0.0 6.19748E-06
26823 44 G/E 51 None 0.6844 None gnomAD-4.0.0 6.84268E-07
26823 44 G/R 51 None 0.6844 None gnomAD-4.0.0 1.20032E-06
26824 45 T/A 60 rs1237485492 0.4015 None gnomAD-2.1.1 4.03E-06
26824 45 T/A 60 rs1237485492 0.4015 None gnomAD-4.0.0 1.59157E-06
26826 47 K/N 64 rs1318267898 0.8344 None gnomAD-2.1.1 4.03E-06
26826 47 K/N 64 rs1318267898 0.8344 None gnomAD-4.0.0 5.47424E-06
26828 49 S/N 66 None 0.4269 None gnomAD-4.0.0 2.05283E-06
26828 49 S/R 66 rs886055243 0.4269 None gnomAD-4.0.0 4.77485E-06
26829 50 I/T 67 rs1705511518 0.5096 None gnomAD-3.1.2 6.58E-06
26829 50 I/T 67 rs1705511518 0.5096 None gnomAD-4.0.0 5.57819E-06
26829 50 I/V 67 rs781744126 0.5096 None gnomAD-2.1.1 8.05E-06
26829 50 I/V 67 rs781744126 0.5096 None gnomAD-4.0.0 4.77477E-06
26830 51 V/L 68 None 0.2984 None gnomAD-4.0.0 3.18322E-06
26831 52 A/S 69 None 0.2207 None gnomAD-4.0.0 6.84277E-07
26831 52 A/T 69 rs747404761 0.2207 None gnomAD-2.1.1 4.02E-06
26831 52 A/T 69 rs747404761 0.2207 None gnomAD-4.0.0 6.84277E-07
26832 53 E/K 70 rs780512337 0.6526 None gnomAD-2.1.1 1.21E-05
26832 53 E/K 70 rs780512337 0.6526 None gnomAD-4.0.0 4.77482E-06
26833 54 S/T 77 None 0.1530 None gnomAD-4.0.0 1.20032E-06
26834 55 K/E 83 None 0.8894 None gnomAD-4.0.0 1.20032E-06
26835 56 V/A 88 rs1705503390 0.5252 None gnomAD-4.0.0 1.59161E-06
26836 57 C/S 89 None 0.1477 None gnomAD-4.0.0 1.20032E-06
26836 57 C/Y 89 rs893506951 0.1477 None gnomAD-3.1.2 6.58E-06
26836 57 C/Y 89 rs893506951 0.1477 None gnomAD-4.0.0 6.57575E-06
26838 59 A/V 91 rs74365721 0.1742 None gnomAD-3.1.2 1.32E-05
26838 59 A/V 91 rs74365721 0.1742 None gnomAD-4.0.0 1.31543E-05
26839 60 V/G 92 rs1157147648 0.5310 None gnomAD-2.1.1 4.02E-06
26839 60 V/G 92 rs1157147648 0.5310 None gnomAD-4.0.0 6.00161E-06
26839 60 V/I 92 rs879175711 0.5310 None gnomAD-4.0.0 2.05285E-06
26840 61 V/G 93 None 0.1464 None gnomAD-4.0.0 1.20032E-06
26840 61 V/I 93 rs373144782 0.1464 None gnomAD-2.1.1 4.02E-06
26840 61 V/I 93 rs373144782 0.1464 None gnomAD-3.1.2 1.32E-05
26840 61 V/I 93 rs373144782 0.1464 None gnomAD-4.0.0 3.84438E-06
26842 63 G/D 96 rs1333464688 0.5181 None gnomAD-3.1.2 6.58E-06
26842 63 G/D 96 rs1333464688 0.5181 None gnomAD-4.0.0 3.71864E-06
26843 64 L/F 97 None 0.1266 None gnomAD-4.0.0 1.20032E-06
26843 64 L/M 97 rs142004835 0.1266 None gnomAD-2.1.1 4.02E-06
26843 64 L/M 97 rs142004835 0.1266 None gnomAD-4.0.0 2.73709E-06
26843 64 L/S 97 rs2154164932 0.1266 None gnomAD-4.0.0 1.5916E-06
26846 67 G/A 100 None 0.4256 None gnomAD-4.0.0 3.60097E-06
26846 67 G/R 100 rs767520023 0.4256 None gnomAD-2.1.1 8.04E-06
26846 67 G/R 100 rs767520023 0.4256 None gnomAD-3.1.2 6.58E-06
26846 67 G/R 100 rs767520023 0.4256 None gnomAD-4.0.0 1.1776E-05
26847 68 Q/E 102 rs561152891 0.3010 None gnomAD-2.1.1 4.02E-06
26847 68 Q/E 102 rs561152891 0.3010 None gnomAD-3.1.2 6.58E-06
26847 68 Q/E 102 rs561152891 0.3010 None 1000 genomes 1.99681E-04
26847 68 Q/E 102 rs561152891 0.3010 None gnomAD-4.0.0 6.57497E-06
26847 68 Q/R 102 None 0.3010 None gnomAD-4.0.0 2.05281E-06
26848 69 E/Q 103 rs898433512 0.2684 None gnomAD-3.1.2 1.31E-05
26848 69 E/Q 103 rs898433512 0.2684 None gnomAD-4.0.0 1.31494E-05
26850 71 Q/H 105 rs1705482872 0.4761 None gnomAD-3.1.2 6.57E-06
26850 71 Q/H 105 rs1705482872 0.4761 None gnomAD-4.0.0 6.57436E-06
26851 72 F/L 106 None 0.1372 None gnomAD-4.0.0 6.84278E-07
26852 73 R/C 107 rs185887755 0.1281 None gnomAD-2.1.1 4.42472E-04
26852 73 R/C 107 rs185887755 0.1281 None gnomAD-3.1.2 1.71023E-04
26852 73 R/C 107 rs185887755 0.1281 None 1000 genomes 5.99042E-04
26852 73 R/C 107 rs185887755 0.1281 None gnomAD-4.0.0 1.63618E-04
26852 73 R/H 107 rs202149931 0.1281 None gnomAD-2.1.1 9.99E-05
26852 73 R/H 107 rs202149931 0.1281 None gnomAD-3.1.2 1.77533E-04
26852 73 R/H 107 rs202149931 0.1281 None 1000 genomes 1.99681E-04
26852 73 R/H 107 rs202149931 0.1281 None gnomAD-4.0.0 8.3664E-05
26852 73 R/L 107 None 0.1281 None gnomAD-4.0.0 6.84277E-07
26854 75 K/E 109 None 0.1725 None gnomAD-4.0.0 1.20032E-06
26854 75 K/N 109 None 0.1725 None gnomAD-4.0.0 1.59163E-06
26855 76 A/G 110 rs1705474323 0.0716 None gnomAD-3.1.2 6.58E-06
26855 76 A/G 110 rs1705474323 0.0716 None gnomAD-4.0.0 6.57644E-06
26855 76 A/P 110 rs939692096 0.0716 None gnomAD-4.0.0 2.05284E-06
26855 76 A/S 110 None 0.0716 None gnomAD-4.0.0 1.36856E-06
26855 76 A/T 110 None 0.0716 None gnomAD-4.0.0 6.84279E-07
26856 77 Y/N 111 rs773473233 0.2042 None gnomAD-2.1.1 4.02E-06
26857 78 N/D 112 None 0.1095 None gnomAD-4.0.0 1.59166E-06
26857 78 N/K 112 None 0.1095 None gnomAD-4.0.0 6.84302E-07
26858 79 E/K 113 None 0.6257 None gnomAD-4.0.0 4.79003E-06
26860 81 G/R 115 rs1184082030 0.2169 None gnomAD-3.1.2 6.58E-06
26860 81 G/R 115 rs1184082030 0.2169 None gnomAD-4.0.0 6.57704E-06
26862 83 S/N 118 rs929588706 0.0997 None gnomAD-2.1.1 4.02E-06
26862 83 S/N 118 rs929588706 0.0997 None gnomAD-3.1.2 1.32E-05
26862 83 S/N 118 rs929588706 0.0997 None gnomAD-4.0.0 2.47919E-06
26862 83 S/R 118 None 0.0997 None gnomAD-4.0.0 6.84288E-07
26863 84 D/E 119 rs1424768327 0.7952 None gnomAD-2.1.1 6.37E-05
26863 84 D/E 119 rs1424768327 0.7952 None gnomAD-3.1.2 1.32E-05
26863 84 D/E 119 rs1424768327 0.7952 None gnomAD-4.0.0 1.31515E-05
26863 84 D/G 119 rs1340374023 0.7952 None gnomAD-2.1.1 4.02E-06
26863 84 D/G 119 rs1340374023 0.7952 None gnomAD-3.1.2 6.57E-06
26863 84 D/G 119 rs1340374023 0.7952 None gnomAD-4.0.0 2.56293E-06
26863 84 D/N 119 rs776528193 0.7952 None gnomAD-2.1.1 2.01E-05
26863 84 D/N 119 rs776528193 0.7952 None gnomAD-4.0.0 8.21162E-06
26864 85 P/A 120 rs1296708710 0.3209 None gnomAD-2.1.1 4.02E-06
26864 85 P/A 120 rs1296708710 0.3209 None gnomAD-4.0.0 1.5917E-06
26865 86 R/K 121 rs1471370920 0.4017 None gnomAD-2.1.1 3.19E-05
26865 86 R/K 121 rs1471370920 0.4017 None gnomAD-3.1.2 6.58E-06
26865 86 R/K 121 rs1471370920 0.4017 None gnomAD-4.0.0 6.5754E-06
26865 86 R/S 121 rs878865997 0.4017 None gnomAD-3.1.2 6.58E-06
26865 86 R/S 121 rs878865997 0.4017 None gnomAD-4.0.0 1.23958E-06
26866 87 V/E 122 None 0.3906 None gnomAD-4.0.0 1.59174E-06
26866 87 V/L 122 rs747456605 0.3906 None gnomAD-4.0.0 6.84291E-07
26866 87 V/M 122 rs747456605 0.3906 None gnomAD-2.1.1 1.21E-05
26866 87 V/M 122 rs747456605 0.3906 None gnomAD-4.0.0 7.5272E-06
26867 88 L/W 123 rs1038243734 0.2018 None gnomAD-2.1.1 4.02E-06
26867 88 L/W 123 rs1038243734 0.2018 None gnomAD-4.0.0 1.59172E-06
26868 89 G/A 124 None 0.5847 None gnomAD-4.0.0 1.20032E-06
26868 89 G/D 124 None 0.5847 None gnomAD-4.0.0 2.40064E-06
26868 89 G/S 124 None 0.5847 None gnomAD-4.0.0 3.42159E-06
26869 90 V/A 125 None 0.6502 None gnomAD-4.0.0 6.00162E-06
26869 90 V/I 125 None 0.6502 None gnomAD-4.0.0 1.59183E-06
26870 91 P/T 126 rs397517718 0.4765 None gnomAD-2.1.1 8.04E-06
26870 91 P/T 126 rs397517718 0.4765 None gnomAD-4.0.0 7.52746E-06
26871 92 V/I 127 None 0.1501 None gnomAD-4.0.0 2.05302E-06
26872 93 I/T 129 rs1167097128 0.4809 None gnomAD-2.1.1 8.04E-06
26872 93 I/T 129 rs1167097128 0.4809 None gnomAD-4.0.0 6.36752E-06
26873 94 A/P 130 None 0.0761 None gnomAD-4.0.0 2.40065E-06
26874 95 K/E 131 rs372155974 0.5557 None gnomAD-2.1.1 4.02E-06
26874 95 K/E 131 rs372155974 0.5557 None gnomAD-3.1.2 6.58E-06
26874 95 K/E 131 rs372155974 0.5557 None gnomAD-4.0.0 6.57531E-06
26874 95 K/T 131 None 0.5557 None gnomAD-4.0.0 2.7373E-06
26875 96 D/H 132 rs1422715847 0.6448 None gnomAD-2.1.1 4.02E-06
26875 96 D/H 132 rs1422715847 0.6448 None gnomAD-3.1.2 6.58E-06
26875 96 D/H 132 rs1422715847 0.6448 None gnomAD-4.0.0 2.47943E-06
26875 96 D/V 132 None 0.6448 None gnomAD-4.0.0 1.20036E-06
26875 96 D/Y 132 rs1422715847 0.6448 None gnomAD-3.1.2 6.58E-06
26875 96 D/Y 132 rs1422715847 0.6448 None gnomAD-4.0.0 1.23972E-06