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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28845 1 T/A 1 None 0.5770 None gnomAD-4.0.0 1.20032E-06
28845 1 T/I 1 rs1488272613 0.5770 None gnomAD-2.1.1 4.03E-06
28845 1 T/I 1 rs1488272613 0.5770 None gnomAD-4.0.0 6.84211E-07
28845 1 T/N 1 None 0.5770 None gnomAD-4.0.0 6.84211E-07
28847 3 G/R 3 rs751088291 0.2372 None gnomAD-2.1.1 4.03E-06
28847 3 G/R 3 rs751088291 0.2372 None gnomAD-3.1.2 6.57E-06
28847 3 G/R 3 rs751088291 0.2372 None gnomAD-4.0.0 2.56237E-06
28847 3 G/S 3 None 0.2372 None gnomAD-4.0.0 1.59132E-06
28847 3 G/V 3 rs1019894719 0.2372 None gnomAD-2.1.1 4.03E-06
28847 3 G/V 3 rs1019894719 0.2372 None gnomAD-3.1.2 8.55E-05
28847 3 G/V 3 rs1019894719 0.2372 None gnomAD-4.0.0 8.54813E-05
28849 5 P/A 5 rs765907573 0.1585 None gnomAD-2.1.1 6.44E-05
28849 5 P/A 5 rs765907573 0.1585 None gnomAD-3.1.2 7.88E-05
28849 5 P/A 5 rs765907573 0.1585 None gnomAD-4.0.0 3.33069E-05
28850 6 T/N 6 rs377049333 0.3963 None gnomAD-4.0.0 2.40064E-06
28852 8 I/T 9 rs1294040369 0.2367 None gnomAD-2.1.1 4.02E-06
28852 8 I/T 9 rs1294040369 0.2367 None gnomAD-3.1.2 6.57E-06
28852 8 I/T 9 rs1294040369 0.2367 None gnomAD-4.0.0 2.47872E-06
28852 8 I/V 9 rs1559277983 0.2367 None gnomAD-4.0.0 1.20032E-06
28853 9 T/I 11 rs769730805 0.4324 None gnomAD-2.1.1 8.05E-06
28853 9 T/I 11 rs769730805 0.4324 None gnomAD-4.0.0 1.36844E-06
28853 9 T/S 11 None 0.4324 None gnomAD-4.0.0 6.8422E-07
28854 10 V/G 12 None 0.3159 None gnomAD-4.0.0 3.18255E-06
28854 10 V/M 12 rs769060885 0.3159 None gnomAD-2.1.1 4.02E-06
28854 10 V/M 12 rs769060885 0.3159 None gnomAD-3.1.2 2.63E-05
28854 10 V/M 12 rs769060885 0.3159 None gnomAD-4.0.0 6.40544E-06
28855 11 Q/R 13 rs1383781795 0.5808 None gnomAD-2.1.1 4.02E-06
28855 11 Q/R 13 rs1383781795 0.5808 None gnomAD-4.0.0 1.59129E-06
28856 12 D/E 14 None 0.7491 None gnomAD-4.0.0 2.05264E-06
28856 12 D/H 14 rs747235124 0.7491 None gnomAD-2.1.1 4.02E-06
28856 12 D/H 14 rs747235124 0.7491 None gnomAD-4.0.0 1.59132E-06
28857 13 V/I 15 rs780040559 0.3141 None gnomAD-2.1.1 4.02E-06
28857 13 V/I 15 rs780040559 0.3141 None gnomAD-3.1.2 6.57E-06
28857 13 V/I 15 rs780040559 0.3141 None gnomAD-4.0.0 2.56203E-06
28858 14 T/I 16 rs1456110995 0.2580 None gnomAD-2.1.1 4.02E-06
28858 14 T/I 16 rs1456110995 0.2580 None gnomAD-4.0.0 1.59129E-06
28859 15 K/E 17 rs1165101738 0.4420 None gnomAD-2.1.1 4.02E-06
28859 15 K/E 17 rs1165101738 0.4420 None gnomAD-4.0.0 1.36842E-06
28860 16 E/D 18 None 0.5722 None gnomAD-4.0.0 1.20032E-06
28861 17 S/A 19 rs772173518 0.1252 None gnomAD-2.1.1 6.79E-05
28861 17 S/A 19 rs772173518 0.1252 None gnomAD-3.1.2 3.95E-05
28861 17 S/A 19 rs772173518 0.1252 None gnomAD-4.0.0 4.3572E-05
28866 22 W/S 24 rs779438420 0.1035 None gnomAD-2.1.1 4.02E-06
28866 22 W/S 24 rs779438420 0.1035 None gnomAD-4.0.0 3.18275E-06
28867 23 D/G 25 rs757623132 0.4323 None gnomAD-2.1.1 4.02E-06
28867 23 D/G 25 rs757623132 0.4323 None gnomAD-4.0.0 6.8422E-07
28867 23 D/V 25 None 0.4323 None gnomAD-4.0.0 1.36844E-06
28868 24 V/A 26 rs1702826806 0.5624 None gnomAD-3.1.2 6.57E-06
28868 24 V/A 26 rs1702826806 0.5624 None gnomAD-4.0.0 6.57073E-06
28868 24 V/I 26 rs754143034 0.5624 None gnomAD-2.1.1 8.04E-06
28868 24 V/I 26 rs754143034 0.5624 None gnomAD-4.0.0 2.7369E-06
28869 25 P/R 27 None 0.2002 None gnomAD-4.0.0 1.59134E-06
28869 25 P/S 27 rs1702825954 0.2002 None gnomAD-3.1.2 6.57E-06
28869 25 P/S 27 rs1702825954 0.2002 None gnomAD-4.0.0 6.57229E-06
28870 26 E/A 28 None 1.0965 None gnomAD-4.0.0 2.7369E-06
28872 28 D/E 30 None 0.3002 None gnomAD-4.0.0 1.59137E-06
28872 28 D/H 30 rs1337280647 0.3002 None gnomAD-2.1.1 4.02E-06
28872 28 D/H 30 rs1337280647 0.3002 None gnomAD-4.0.0 6.84239E-07
28872 28 D/N 30 rs1337280647 0.3002 None gnomAD-2.1.1 3.18E-05
28872 28 D/N 30 rs1337280647 0.3002 None gnomAD-3.1.2 6.57E-06
28872 28 D/N 30 rs1337280647 0.3002 None gnomAD-4.0.0 1.85914E-06
28873 29 G/D 31 rs1316147822 0.3262 None gnomAD-2.1.1 4.02E-06
28873 29 G/D 31 rs1316147822 0.3262 None gnomAD-4.0.0 1.59138E-06
28873 29 G/S 31 rs751192122 0.3262 None gnomAD-2.1.1 4.02E-06
28873 29 G/S 31 rs751192122 0.3262 None gnomAD-4.0.0 1.5914E-06
28874 30 G/R 32 rs765852996 0.5586 None gnomAD-2.1.1 4.02E-06
28874 30 G/R 32 rs765852996 0.5586 None gnomAD-4.0.0 4.77426E-06
28875 31 A/E 33 rs1702816828 0.1557 None gnomAD-4.0.0 6.84237E-07
28875 31 A/G 33 None 0.1557 None gnomAD-4.0.0 6.84237E-07
28875 31 A/T 33 rs762472705 0.1557 None gnomAD-2.1.1 3.62E-05
28875 31 A/T 33 rs762472705 0.1557 None gnomAD-3.1.2 7.23E-05
28875 31 A/T 33 rs762472705 0.1557 None gnomAD-4.0.0 2.69042E-05
28876 32 P/L 34 rs987601709 0.6583 None gnomAD-4.0.0 6.8424E-07
28876 32 P/S 34 rs1322696753 0.6583 None gnomAD-2.1.1 8.04E-06
28876 32 P/S 34 rs1322696753 0.6583 None gnomAD-4.0.0 6.36568E-06
28877 33 V/G 35 None 0.2304 None gnomAD-4.0.0 1.59145E-06
28877 33 V/L 35 rs750357355 0.2304 None gnomAD-2.1.1 3.18E-05
28877 33 V/L 35 rs750357355 0.2304 None gnomAD-3.1.2 6.57E-06
28877 33 V/L 35 rs750357355 0.2304 None gnomAD-4.0.0 1.85914E-06
28877 33 V/M 35 rs750357355 0.2304 None gnomAD-2.1.1 8.04E-06
28877 33 V/M 35 rs750357355 0.2304 None gnomAD-4.0.0 3.42119E-06
28878 34 K/R 36 None 0.4360 None gnomAD-4.0.0 1.59138E-06
28879 35 N/K 37 rs1114167328 0.2413 None gnomAD-4.0.0 6.84239E-07
28879 35 N/S 37 None 0.2413 None gnomAD-4.0.0 1.59144E-06
28880 36 Y/D 38 rs1244106142 0.1148 None gnomAD-2.1.1 3.19E-05
28880 36 Y/D 38 rs1244106142 0.1148 None gnomAD-3.1.2 6.57E-06
28880 36 Y/D 38 rs1244106142 0.1148 None gnomAD-4.0.0 6.57281E-06
28881 37 H/D 39 None 0.2504 None gnomAD-4.0.0 1.20032E-06
28882 38 I/T 40 rs374491926 0.0731 None gnomAD-2.1.1 4.02E-06
28882 38 I/T 40 rs374491926 0.0731 None gnomAD-3.1.2 1.32E-05
28882 38 I/T 40 rs374491926 0.0731 None gnomAD-4.0.0 3.71866E-06
28882 38 I/V 40 None 0.0731 None gnomAD-4.0.0 1.36848E-06
28884 40 K/E 42 rs761832458 0.1939 None gnomAD-2.1.1 4.02E-06
28884 40 K/E 42 rs761832458 0.1939 None gnomAD-3.1.2 6.57E-06
28884 40 K/E 42 rs761832458 0.1939 None gnomAD-4.0.0 1.85921E-06
28885 41 R/C 43 rs1702802682 0.1451 None gnomAD-3.1.2 6.57E-06
28885 41 R/C 43 rs1702802682 0.1451 None gnomAD-4.0.0 3.09877E-06
28885 41 R/H 43 rs371539720 0.1451 None gnomAD-2.1.1 3.57E-05
28885 41 R/H 43 rs371539720 0.1451 None gnomAD-3.1.2 3.29E-05
28885 41 R/H 43 rs371539720 0.1451 None gnomAD-4.0.0 3.40854E-05
28885 41 R/L 43 rs371539720 0.1451 None gnomAD-2.1.1 4.02E-06
28885 41 R/L 43 rs371539720 0.1451 None gnomAD-4.0.0 6.84255E-07
28886 42 E/D 44 rs760858743 0.2057 None gnomAD-2.1.1 4.02E-06
28886 42 E/D 44 rs760858743 0.2057 None gnomAD-4.0.0 6.84256E-07
28886 42 E/Q 44 None 0.2057 None gnomAD-4.0.0 1.59146E-06
28887 43 A/T 50 rs1377533598 0.3105 None gnomAD-4.0.0 2.73696E-06
28888 44 S/G 54 rs1197285138 0.5023 None gnomAD-2.1.1 8.03E-06
28888 44 S/G 54 rs1197285138 0.5023 None gnomAD-4.0.0 4.77444E-06
28888 44 S/R 54 None 0.5023 None gnomAD-4.0.0 1.59152E-06
28888 44 S/T 54 rs1470114541 0.5023 None gnomAD-2.1.1 4.02E-06
28888 44 S/T 54 rs1470114541 0.5023 None gnomAD-4.0.0 1.59152E-06
28889 45 K/T 60 None 0.4356 None gnomAD-4.0.0 1.20032E-06
28891 47 A/P 64 rs535801518 0.5303 None gnomAD-3.1.2 1.31E-05
28891 47 A/P 64 rs535801518 0.5303 None 1000 genomes 1.99681E-04
28891 47 A/P 64 rs535801518 0.5303 None gnomAD-4.0.0 1.31349E-05
28891 47 A/S 64 rs535801518 0.5303 None gnomAD-3.1.2 6.57E-06
28891 47 A/S 64 rs535801518 0.5303 None gnomAD-4.0.0 2.54087E-05
28892 48 W/C 65 rs779407441 0.2496 None gnomAD-2.1.1 1.61E-05
28892 48 W/C 65 rs779407441 0.2496 None gnomAD-4.0.0 1.11401E-05
28892 48 W/L 65 None 0.2496 None gnomAD-4.0.0 6.84249E-07
28892 48 W/R 65 rs772076860 0.2496 None gnomAD-2.1.1 4.02E-06
28892 48 W/R 65 rs772076860 0.2496 None gnomAD-4.0.0 1.36847E-06
28892 48 W/S 65 rs745896785 0.2496 None gnomAD-2.1.1 4.02E-06
28892 48 W/S 65 rs745896785 0.2496 None gnomAD-3.1.2 1.97E-05
28892 48 W/S 65 rs745896785 0.2496 None gnomAD-4.0.0 6.19722E-06
28895 51 V/M 68 rs201290358 0.2303 None gnomAD-2.1.1 1.33046E-03
28895 51 V/M 68 rs201290358 0.2303 None gnomAD-3.1.2 3.87847E-04
28895 51 V/M 68 rs201290358 0.2303 None 1000 genomes 2.99521E-03
28895 51 V/M 68 rs201290358 0.2303 None gnomAD-4.0.0 6.99006E-04
28896 52 T/I 69 None 0.1452 None gnomAD-4.0.0 1.59144E-06
28896 52 T/P 69 rs778149999 0.1452 None gnomAD-2.1.1 1.2E-05
28896 52 T/P 69 rs778149999 0.1452 None gnomAD-4.0.0 6.3658E-06
28897 53 N/H 70 rs1702786623 0.4917 None gnomAD-3.1.2 6.57E-06
28897 53 N/H 70 rs1702786623 0.4917 None gnomAD-4.0.0 6.57056E-06
28897 53 N/K 70 rs756448014 0.4917 None gnomAD-2.1.1 8.03E-06
28897 53 N/K 70 rs756448014 0.4917 None gnomAD-4.0.0 3.42125E-06
28898 54 N/S 75 None 0.6319 None gnomAD-4.0.0 1.36848E-06
28898 54 N/Y 75 None 0.6319 None gnomAD-4.0.0 2.40064E-06
28899 55 C/G 77 None 0.0814 None gnomAD-4.0.0 3.18291E-06
28900 56 N/K 83 rs727504793 0.8067 None gnomAD-4.0.0 2.05275E-06
28901 57 R/C 88 rs757848764 0.7141 None gnomAD-2.1.1 1.21E-05
28901 57 R/C 88 rs757848764 0.7141 None gnomAD-3.1.2 1.97E-05
28901 57 R/C 88 rs757848764 0.7141 None gnomAD-4.0.0 1.23951E-05
28901 57 R/G 88 rs757848764 0.7141 None gnomAD-4.0.0 6.84262E-07
28901 57 R/H 88 rs550229338 0.7141 None gnomAD-2.1.1 5.23E-05
28901 57 R/H 88 rs550229338 0.7141 None gnomAD-3.1.2 1.97E-05
28901 57 R/H 88 rs550229338 0.7141 None 1000 genomes 3.99361E-04
28901 57 R/H 88 rs550229338 0.7141 None gnomAD-4.0.0 1.36333E-05
28905 61 K/N 92 None 0.4029 None gnomAD-4.0.0 1.59147E-06
28905 61 K/R 92 rs764838711 0.4029 None gnomAD-2.1.1 4.02E-06
28905 61 K/R 92 rs764838711 0.4029 None gnomAD-3.1.2 6.57E-06
28905 61 K/R 92 rs764838711 0.4029 None gnomAD-4.0.0 2.56248E-06
28907 63 T/I 94 None 0.4340 None gnomAD-4.0.0 5.47407E-06
28908 64 N/S 96 rs377612718 0.8573 None gnomAD-2.1.1 1.06992E-04
28908 64 N/S 96 rs377612718 0.8573 None gnomAD-3.1.2 1.90516E-04
28908 64 N/S 96 rs377612718 0.8573 None 1000 genomes 1.99681E-04
28908 64 N/S 96 rs377612718 0.8573 None gnomAD-4.0.0 6.87824E-05
28909 65 L/F 97 None 0.1145 None gnomAD-4.0.0 6.84255E-07
28911 67 E/A 99 rs370232500 0.6297 None gnomAD-4.0.0 1.59211E-06
28911 67 E/G 99 None 0.6297 None gnomAD-4.0.0 1.59211E-06
28911 67 E/K 99 None 0.6297 None gnomAD-4.0.0 2.40069E-06
28912 68 G/E 100 rs1559275550 0.3268 None gnomAD-2.1.1 3.19E-05
28912 68 G/E 100 rs1559275550 0.3268 None gnomAD-3.1.2 6.57E-06
28912 68 G/E 100 rs1559275550 0.3268 None gnomAD-4.0.0 6.57203E-06
28912 68 G/V 100 None 0.3268 None gnomAD-4.0.0 6.8427E-07
28913 69 A/P 102 rs2154157801 0.1392 None gnomAD-4.0.0 1.59155E-06
28914 70 I/V 103 rs786205373 0.3822 None gnomAD-2.1.1 4.02E-06
28914 70 I/V 103 rs786205373 0.3822 None gnomAD-4.0.0 2.05281E-06
28915 71 Y/C 104 rs764006835 0.1166 None gnomAD-2.1.1 4.02E-06
28915 71 Y/C 104 rs764006835 0.1166 None gnomAD-3.1.2 6.57E-06
28915 71 Y/C 104 rs764006835 0.1166 None gnomAD-4.0.0 6.57065E-06
28916 72 Y/F 105 None 0.3233 None gnomAD-4.0.0 2.73711E-06
28916 72 Y/H 105 None 0.3233 None gnomAD-4.0.0 6.8428E-07
28918 74 R/S 107 None 0.1685 None gnomAD-4.0.0 2.05295E-06
28918 74 R/T 107 None 0.1685 None gnomAD-4.0.0 1.59192E-06
28919 75 V/I 108 None 0.0928 None gnomAD-4.0.0 1.59192E-06
28920 76 S/C 109 rs1396089552 0.1421 None gnomAD-2.1.1 4.02E-06
28920 76 S/C 109 rs1396089552 0.1421 None gnomAD-4.0.0 1.59267E-06
28921 77 G/A 110 None 0.1266 None gnomAD-4.0.0 1.20034E-06
28922 78 E/Q 111 rs1178384540 0.2217 None gnomAD-2.1.1 4.02E-06
28922 78 E/Q 111 rs1178384540 0.2217 None gnomAD-4.0.0 2.73807E-06
28924 80 E/D 113 None 0.3703 None gnomAD-4.0.0 6.84865E-07
28925 81 F/I 114 rs1234811705 0.5298 None gnomAD-2.1.1 4.03E-06
28925 81 F/I 114 rs1234811705 0.5298 None gnomAD-4.0.0 1.36971E-06
28925 81 F/L 114 None 0.5298 None gnomAD-4.0.0 6.84855E-07
28925 81 F/S 114 rs760480245 0.5298 None gnomAD-2.1.1 8.06E-06
28926 82 G/D 115 rs1441930983 0.2139 None gnomAD-2.1.1 4.03E-06
28926 82 G/D 115 rs1441930983 0.2139 None gnomAD-4.0.0 1.59544E-06
28927 83 V/I 117 None 0.3884 None gnomAD-4.0.0 3.60098E-06
28928 84 G/A 118 rs767722495 0.1739 None gnomAD-3.1.2 1.31E-05
28928 84 G/A 118 rs767722495 0.1739 None gnomAD-4.0.0 2.4827E-06
28928 84 G/D 118 rs767722495 0.1739 None gnomAD-2.1.1 4.04E-06
28928 84 G/D 118 rs767722495 0.1739 None gnomAD-4.0.0 4.79789E-06
28928 84 G/S 118 rs775579177 0.1739 None gnomAD-2.1.1 4.04E-06
28928 84 G/S 118 rs775579177 0.1739 None gnomAD-4.0.0 4.7998E-06
28929 85 I/K 119 rs778373815 0.5359 None gnomAD-4.0.0 1.20035E-06
28929 85 I/V 119 None 0.5359 None gnomAD-4.0.0 1.32036E-05
28930 86 P/S 120 rs758656233 0.4212 None gnomAD-4.0.0 1.37241E-06
28931 87 A/G 121 rs774479678 0.1954 None gnomAD-3.1.2 6.58E-06
28931 87 A/G 121 rs774479678 0.1954 None gnomAD-4.0.0 1.2499E-06
28931 87 A/T 121 None 0.1954 None gnomAD-4.0.0 1.20035E-06
28931 87 A/V 121 None 0.1954 None gnomAD-4.0.0 6.90584E-07
28932 88 E/A 122 rs1702752207 0.3868 None gnomAD-4.0.0 1.20035E-06
28934 90 K/N 124 rs1280845808 1.0371 None gnomAD-2.1.1 4.24E-06
28934 90 K/N 124 rs1280845808 1.0371 None gnomAD-4.0.0 1.38871E-06
28936 92 G/E 126 rs749842120 0.2881 None gnomAD-2.1.1 4.26E-06
28936 92 G/E 126 rs749842120 0.2881 None gnomAD-3.1.2 6.57E-06
28936 92 G/E 126 rs749842120 0.2881 None gnomAD-4.0.0 6.91362E-06
28936 92 G/R 126 rs770966722 0.2881 None gnomAD-2.1.1 4.26E-06
28936 92 G/V 126 None 0.2881 None gnomAD-4.0.0 2.08492E-06
28937 93 V/I 127 rs794727453 0.2991 None gnomAD-3.1.2 3.29E-05
28937 93 V/I 127 rs794727453 0.2991 None gnomAD-4.0.0 7.9363E-06
28938 94 K/N 129 rs770082146 0.4791 None gnomAD-2.1.1 4.27E-06
28938 94 K/N 129 rs770082146 0.4791 None gnomAD-4.0.0 3.31181E-06
28938 94 K/R 129 None 0.4791 None gnomAD-4.0.0 1.2004E-06
28939 95 I/M 130 rs1339393161 0.0744 None gnomAD-2.1.1 4.33E-06
28939 95 I/M 130 rs1339393161 0.0744 None gnomAD-4.0.0 5.57963E-06
28939 95 I/T 130 None 0.0744 None gnomAD-4.0.0 1.66328E-06
28939 95 I/V 130 None 0.0744 None gnomAD-4.0.0 1.20052E-06
28940 96 T/A 131 rs748476449 0.5259 None gnomAD-2.1.1 1.14E-05
28940 96 T/A 131 rs748476449 0.5259 None gnomAD-3.1.2 1.31E-05
28940 96 T/A 131 rs748476449 0.5259 None gnomAD-4.0.0 5.67686E-06
28940 96 T/I 131 None 0.5259 None gnomAD-4.0.0 1.6663E-06
28941 97 E/D 132 rs1702394454 0.4385 None gnomAD-3.1.2 6.57E-06
28941 97 E/D 132 rs1702394454 0.4385 None gnomAD-4.0.0 2.57384E-06
28941 97 E/K 132 None 0.4385 None gnomAD-4.0.0 1.67668E-06