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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
35607 1 A/D 1 None 0.9972 None gnomAD-4.0.0 6.8414E-07
35607 1 A/V 1 rs377337528 0.9972 None gnomAD-2.1.1 1.21232E-04
35607 1 A/V 1 rs377337528 0.9972 None gnomAD-3.1.2 9.2E-05
35607 1 A/V 1 rs377337528 0.9972 None gnomAD-4.0.0 1.69162E-04
35608 2 E/A 2 None 0.6817 None gnomAD-4.0.0 1.20032E-06
35608 2 E/K 2 rs766501757 0.6817 None gnomAD-2.1.1 4.02E-06
35608 2 E/K 2 rs766501757 0.6817 None gnomAD-4.0.0 1.5909E-06
35609 3 I/M 3 rs727504540 0.3836 None gnomAD-2.1.1 3.03063E-04
35609 3 I/M 3 rs727504540 0.3836 None gnomAD-3.1.2 2.63E-05
35609 3 I/M 3 rs727504540 0.3836 None gnomAD-4.0.0 6.56804E-05
35609 3 I/N 3 None 0.3836 None gnomAD-4.0.0 1.20032E-06
35609 3 I/V 3 rs573508906 0.3836 None gnomAD-2.1.1 4.02E-06
35609 3 I/V 3 rs573508906 0.3836 None gnomAD-3.1.2 6.57E-06
35609 3 I/V 3 rs573508906 0.3836 None 1000 genomes 1.99681E-04
35609 3 I/V 3 rs573508906 0.3836 None gnomAD-4.0.0 2.0295E-06
35610 4 K/E 4 rs753984036 0.9380 None gnomAD-2.1.1 1.2E-05
35610 4 K/E 4 rs753984036 0.9380 None gnomAD-3.1.2 1.97E-05
35610 4 K/E 4 rs753984036 0.9380 None gnomAD-4.0.0 3.53176E-05
35611 5 A/E 5 None 0.4470 None gnomAD-4.0.0 6.84139E-07
35611 5 A/G 5 None 0.4470 None gnomAD-4.0.0 6.84139E-07
35611 5 A/P 5 rs1304855425 0.4470 None gnomAD-2.1.1 8.03E-06
35611 5 A/P 5 rs1304855425 0.4470 None gnomAD-4.0.0 2.52068E-05
35611 5 A/V 5 None 0.4470 None gnomAD-4.0.0 6.84139E-07
35612 6 F/S 7 rs762372340 0.8304 None gnomAD-2.1.1 4.01E-06
35612 6 F/S 7 rs762372340 0.8304 None gnomAD-3.1.2 1.31E-05
35612 6 F/S 7 rs762372340 0.8304 None gnomAD-4.0.0 3.71768E-06
35613 7 S/A 8 rs374405802 0.5125 None gnomAD-2.1.1 5.7E-05
35613 7 S/A 8 rs374405802 0.5125 None gnomAD-3.1.2 5.25E-05
35613 7 S/A 8 rs374405802 0.5125 None gnomAD-4.0.0 3.09802E-05
35613 7 S/P 8 rs374405802 0.5125 None gnomAD-2.1.1 8.03E-06
35613 7 S/P 8 rs374405802 0.5125 None gnomAD-3.1.2 1.97E-05
35613 7 S/P 8 rs374405802 0.5125 None gnomAD-4.0.0 1.97052E-05
35614 8 T/S 9 rs2154131436 0.4284 None gnomAD-4.0.0 1.20032E-06
35616 10 M/R 13 None 0.2878 None gnomAD-4.0.0 1.20032E-06
35616 10 M/T 13 None 0.2878 None gnomAD-4.0.0 1.20032E-06
35616 10 M/V 13 None 0.2878 None gnomAD-4.0.0 1.36828E-06
35618 12 I/M 16 rs1687755639 0.1528 None gnomAD-4.0.0 3.18176E-06
35618 12 I/R 16 None 0.1528 None gnomAD-4.0.0 6.84139E-07
35618 12 I/T 16 rs1575194805 0.1528 None gnomAD-3.1.2 6.57E-06
35618 12 I/T 16 rs1575194805 0.1528 None gnomAD-4.0.0 2.47842E-06
35619 13 N/H 18 None 0.4996 None gnomAD-4.0.0 2.40064E-06
35619 13 N/I 18 None 0.4996 None gnomAD-4.0.0 6.84139E-06
35619 13 N/K 18 rs116604145 0.4996 None gnomAD-4.0.0 1.36828E-06
35620 14 E/K 23 rs377593605 0.7702 None gnomAD-2.1.1 1.61E-05
35620 14 E/K 23 rs377593605 0.7702 None gnomAD-3.1.2 3.94E-05
35620 14 E/K 23 rs377593605 0.7702 None 1000 genomes 1.99681E-04
35620 14 E/K 23 rs377593605 0.7702 None gnomAD-4.0.0 1.48699E-05
35621 15 G/A 24 None 0.3357 None gnomAD-4.0.0 1.20032E-06
35621 15 G/D 24 None 0.3357 None gnomAD-4.0.0 1.20032E-06
35622 16 Q/E 25 rs748846449 0.3418 None gnomAD-2.1.1 4.02E-06
35622 16 Q/E 25 rs748846449 0.3418 None gnomAD-4.0.0 1.59089E-06
35623 17 R/I 26 rs777105439 0.6215 None gnomAD-2.1.1 8.03E-06
35623 17 R/S 26 None 0.6215 None gnomAD-4.0.0 6.84143E-07
35625 19 V/L 29 rs1687747331 0.4058 None gnomAD-4.0.0 1.59091E-06
35626 20 L/V 30 rs373152640 0.1378 None gnomAD-2.1.1 4.64E-05
35626 20 L/V 30 rs373152640 0.1378 None gnomAD-3.1.2 6.57E-05
35626 20 L/V 30 rs373152640 0.1378 None 1000 genomes 5.99042E-04
35626 20 L/V 30 rs373152640 0.1378 None gnomAD-4.0.0 4.39903E-05
35627 21 K/R 31 rs1284079251 0.4515 None gnomAD-3.1.2 6.57E-06
35627 21 K/R 31 rs1284079251 0.4515 None gnomAD-4.0.0 6.56935E-06
35628 22 A/G 33 rs748131753 0.1171 None gnomAD-2.1.1 1.2E-05
35628 22 A/G 33 rs748131753 0.1171 None gnomAD-4.0.0 6.84145E-06
35629 23 N/S 34 rs781094190 0.6005 None gnomAD-2.1.1 1.61E-05
35629 23 N/S 34 rs781094190 0.6005 None gnomAD-4.0.0 9.57799E-06
35630 24 I/V 35 rs754830278 0.1867 None gnomAD-2.1.1 4.02E-06
35630 24 I/V 35 rs754830278 0.1867 None gnomAD-4.0.0 1.5909E-06
35631 25 A/T 38 None 0.6747 None gnomAD-4.0.0 1.36829E-06
35632 26 G/D 40 rs1210557316 0.5417 None gnomAD-3.1.2 6.57E-06
35632 26 G/D 40 rs1210557316 0.5417 None gnomAD-4.0.0 1.23928E-06
35632 26 G/V 40 rs1210557316 0.5417 None gnomAD-4.0.0 6.84146E-07
35633 27 A/T 41 rs766681840 0.2449 None gnomAD-4.0.0 2.40064E-06
35634 28 T/A 44 None 0.4947 None gnomAD-4.0.0 1.20032E-06
35635 29 D/E 45 rs1255745337 0.5664 None gnomAD-2.1.1 4.02E-06
35635 29 D/E 45 rs1255745337 0.5664 None gnomAD-4.0.0 1.3683E-06
35635 29 D/H 45 None 0.5664 None gnomAD-4.0.0 6.8415E-07
35635 29 D/N 45 None 0.5664 None gnomAD-4.0.0 1.3683E-06
35636 30 V/G 46 rs1482221696 0.2951 None gnomAD-3.1.2 6.57E-06
35636 30 V/G 46 rs1482221696 0.2951 None gnomAD-4.0.0 6.57289E-06
35636 30 V/M 46 rs751243461 0.2951 None gnomAD-2.1.1 7.13E-06
35636 30 V/M 46 rs751243461 0.2951 None gnomAD-3.1.2 6.57E-06
35636 30 V/M 46 rs751243461 0.2951 None gnomAD-4.0.0 1.17727E-05
35637 31 K/N 47 rs767045071 0.4142 None gnomAD-4.0.0 1.91561E-05
35638 32 W/C 48 rs758497512 0.1176 None gnomAD-2.1.1 8.03E-06
35638 32 W/C 48 rs758497512 0.1176 None gnomAD-4.0.0 6.84157E-07
35638 32 W/R 48 rs1408667252 0.1176 None gnomAD-3.1.2 6.57E-06
35638 32 W/R 48 rs1408667252 0.1176 None gnomAD-4.0.0 6.84151E-07
35639 33 V/A 49 None 0.1668 None gnomAD-4.0.0 1.59095E-06
35639 33 V/I 49 rs557752216 0.1668 None gnomAD-4.0.0 1.3683E-06
35639 33 V/L 49 rs557752216 0.1668 None 1000 genomes 1.99681E-04
35639 33 V/L 49 rs557752216 0.1668 None gnomAD-4.0.0 2.05245E-06
35640 34 L/P 50 rs750550267 0.1642 None gnomAD-2.1.1 1.07E-05
35640 34 L/P 50 rs750550267 0.1642 None gnomAD-4.0.0 2.05246E-06
35640 34 L/R 50 rs750550267 0.1642 None gnomAD-2.1.1 1.21E-05
35640 34 L/R 50 rs750550267 0.1642 None gnomAD-4.0.0 2.73662E-06
35641 35 N/H 51 None 0.5099 None gnomAD-4.0.0 2.73661E-06
35641 35 N/K 51 None 0.5099 None gnomAD-4.0.0 4.80129E-06
35642 36 G/D 52 rs1553480410 0.4975 None gnomAD-4.0.0 1.20032E-06
35643 37 V/A 55 rs1339468653 0.6242 None gnomAD-2.1.1 7.14E-06
35643 37 V/A 55 rs1339468653 0.6242 None gnomAD-3.1.2 6.57E-06
35643 37 V/A 55 rs1339468653 0.6242 None gnomAD-4.0.0 1.85898E-06
35643 37 V/I 55 rs754459138 0.6242 None gnomAD-2.1.1 6.07E-05
35643 37 V/I 55 rs754459138 0.6242 None gnomAD-3.1.2 3.94E-05
35643 37 V/I 55 rs754459138 0.6242 HCM
Literature None
35643 37 V/I 55 rs754459138 0.6242 None gnomAD-4.0.0 9.85272E-05
35646 40 T/A 59 rs1558970634 0.7390 None gnomAD-2.1.1 4.02E-06
35646 40 T/A 59 rs1558970634 0.7390 None gnomAD-4.0.0 1.59133E-06
35647 41 N/S 70 None 0.4772 None gnomAD-4.0.0 2.05272E-06
35648 42 S/P 73 None 0.2149 None gnomAD-4.0.0 2.05272E-06
35649 43 E/D 111 rs764693838 0.6798 None gnomAD-2.1.1 4.02E-06
35652 46 R/G 122 rs565675340 0.5488 None gnomAD-2.1.1 4.02E-06
35652 46 R/G 122 rs565675340 0.5488 None gnomAD-4.0.0 1.369E-06
35652 46 R/Q 122 rs200497615 0.5488 None gnomAD-2.1.1 1.64394E-04
35652 46 R/Q 122 rs200497615 0.5488 None gnomAD-3.1.2 1.70862E-04
35652 46 R/Q 122 rs200497615 0.5488 None gnomAD-4.0.0 3.97383E-04
35653 47 Y/D 123 rs886042500 0.3269 None gnomAD-2.1.1 4.02E-06
35653 47 Y/D 123 rs886042500 0.3269 None gnomAD-3.1.2 6.57E-06
35653 47 Y/D 123 rs886042500 0.3269 None gnomAD-4.0.0 2.05115E-05
35654 48 G/S 125 None 0.3437 None gnomAD-4.0.0 1.20032E-06
35656 50 S/L 130 None 0.5129 None gnomAD-4.0.0 1.5942E-06
35657 51 G/D 131 None 0.6029 None gnomAD-4.0.0 1.59445E-06
35657 51 G/S 131 rs2154131322 0.6029 None gnomAD-4.0.0 1.59416E-06
35658 52 S/N 134 rs772898540 0.3467 None gnomAD-2.1.1 8.06E-06
35658 52 S/N 134 rs772898540 0.3467 None gnomAD-4.0.0 2.05438E-06
35659 53 D/N 135 rs878992336 0.2217 None gnomAD-2.1.1 1.43E-05
35659 53 D/N 135 rs878992336 0.2217 None gnomAD-3.1.2 3.94E-05
35659 53 D/N 135 rs878992336 0.2217 None gnomAD-4.0.0 7.44257E-06
35659 53 D/Y 135 None 0.2217 None gnomAD-4.0.0 6.84829E-07
35660 54 Q/H 136 None 0.1963 None gnomAD-4.0.0 2.40064E-06
35660 54 Q/R 136 rs1258652838 0.1963 None gnomAD-2.1.1 4.03E-06
35660 54 Q/R 136 rs1258652838 0.1963 None gnomAD-4.0.0 1.59397E-06
35661 55 T/I 137 rs747649004 0.1626 None gnomAD-2.1.1 8.06E-06
35661 55 T/I 137 rs747649004 0.1626 None gnomAD-3.1.2 6.57E-06
35661 55 T/I 137 rs747649004 0.1626 None gnomAD-4.0.0 6.57462E-06
35662 56 L/P 138 None 0.0836 None gnomAD-4.0.0 1.20032E-06
35663 57 T/S 139 None 0.2199 None gnomAD-4.0.0 4.80129E-06
35664 58 I/F 140 rs781108499 0.1627 None gnomAD-2.1.1 4.03E-06
35664 58 I/F 140 rs781108499 0.1627 None gnomAD-4.0.0 6.84571E-07
35664 58 I/S 140 rs1060500501 0.1627 None gnomAD-2.1.1 4.03E-06
35664 58 I/S 140 rs1060500501 0.1627 None gnomAD-4.0.0 6.84664E-07
35664 58 I/T 140 None 0.1627 None gnomAD-4.0.0 6.84664E-07
35664 58 I/V 140 rs781108499 0.1627 None gnomAD-2.1.1 1.21E-05
35664 58 I/V 140 rs781108499 0.1627 None gnomAD-4.0.0 1.71143E-05
35665 59 K/R 141 rs746841189 0.2985 None gnomAD-2.1.1 7.16E-06
35665 59 K/R 141 rs746841189 0.2985 None gnomAD-3.1.2 1.97E-05
35665 59 K/R 141 rs746841189 0.2985 None gnomAD-4.0.0 5.12888E-06
35666 60 Q/E 143 rs750660824 0.6831 None gnomAD-2.1.1 1.44E-05
35666 60 Q/E 143 rs750660824 0.6831 None gnomAD-3.1.2 3.29E-05
35666 60 Q/E 143 rs750660824 0.6831 None gnomAD-4.0.0 1.30299E-05
35666 60 Q/K 143 None 0.6831 None gnomAD-3.1.2 2.63E-05
35666 60 Q/K 143 None 0.6831 None gnomAD-4.0.0 2.35783E-05
35666 60 Q/R 143 None 0.6831 None gnomAD-4.0.0 1.20032E-06
35668 62 S/N 145 rs1687674300 0.1918 None gnomAD-4.0.0 3.18635E-06
35668 62 S/R 145 rs779265208 0.1918 None gnomAD-2.1.1 2.82E-05
35668 62 S/R 145 rs779265208 0.1918 None gnomAD-4.0.0 4.10724E-06
35670 64 R/G 148 None 0.7047 None gnomAD-4.0.0 1.59281E-06
35670 64 R/T 148 rs534961012 0.7047 None gnomAD-2.1.1 3.58E-05
35670 64 R/T 148 rs534961012 0.7047 None gnomAD-3.1.2 3.94E-05
35670 64 R/T 148 rs534961012 0.7047 None 1000 genomes 3.99361E-04
35670 64 R/T 148 rs534961012 0.7047 None gnomAD-4.0.0 3.34728E-05
35671 65 D/N 149 rs1397922467 0.2126 None gnomAD-2.1.1 4.03E-06
35671 65 D/N 149 rs1397922467 0.2126 None gnomAD-4.0.0 2.05345E-06
35672 66 E/D 151 rs753906444 0.3848 None gnomAD-2.1.1 4.03E-06
35672 66 E/D 151 rs753906444 0.3848 None gnomAD-4.0.0 1.59256E-06
35672 66 E/K 151 None 0.3848 None gnomAD-4.0.0 1.20032E-06
35673 67 G/R 152 rs786205290 0.2013 None gnomAD-4.0.0 6.84448E-07
35673 67 G/V 152 None 0.2013 None gnomAD-4.0.0 1.59261E-06
35675 69 L/P 154 None 0.0979 None gnomAD-4.0.0 1.20032E-06
35676 70 T/I 155 rs764714213 0.2152 None gnomAD-2.1.1 1.61E-05
35676 70 T/I 155 rs764714213 0.2152 None gnomAD-4.0.0 6.36772E-06
35677 71 C/R 156 None 0.0864 None gnomAD-4.0.0 3.42172E-06
35678 72 I/K 157 rs1558969484 0.3120 None gnomAD-2.1.1 4.03E-06
35678 72 I/K 157 rs1558969484 0.3120 None gnomAD-4.0.0 2.73723E-06
35678 72 I/M 157 None 0.3120 None gnomAD-4.0.0 1.59179E-06
35678 72 I/T 157 None 0.3120 None gnomAD-4.0.0 6.84307E-07
35678 72 I/V 157 rs1404746485 0.3120 None gnomAD-2.1.1 4.03E-06
35678 72 I/V 157 rs1404746485 0.3120 None gnomAD-4.0.0 1.59176E-06
35679 73 S/G 158 rs2154131258 0.1205 None gnomAD-4.0.0 1.59189E-06
35679 73 S/N 158 None 0.1205 None gnomAD-4.0.0 1.59199E-06
35681 75 T/S 161 None 0.2352 None gnomAD-4.0.0 2.40064E-06
35683 77 E/K 163 None 0.8583 None gnomAD-4.0.0 1.5918E-06
35684 78 G/E 164 None 0.2327 None gnomAD-4.0.0 1.59186E-06
35684 78 G/R 164 rs761040950 0.2327 None gnomAD-2.1.1 2.02E-05
35684 78 G/R 164 rs761040950 0.2327 None gnomAD-3.1.2 1.31E-05
35684 78 G/R 164 rs761040950 0.2327 None gnomAD-4.0.0 1.05364E-05
35685 79 I/F 165 None 0.5377 None gnomAD-4.0.0 1.59179E-06
35686 80 V/G 166 None 0.2170 None gnomAD-4.0.0 1.20032E-06
35686 80 V/I 166 rs751581732 0.2170 None gnomAD-2.1.1 2.42E-05
35686 80 V/I 166 rs751581732 0.2170 None gnomAD-3.1.2 1.97E-05
35686 80 V/I 166 rs751581732 0.2170 None gnomAD-4.0.0 3.59507E-05
35687 81 K/N 168 rs113190638 0.4051 None gnomAD-2.1.1 4.03E-06
35687 81 K/N 168 rs113190638 0.4051 None gnomAD-4.0.0 3.42177E-06
35687 81 K/R 168 rs764684882 0.4051 None gnomAD-2.1.1 7.16E-06
35687 81 K/R 168 rs764684882 0.4051 None gnomAD-3.1.2 1.97E-05
35687 81 K/R 168 rs764684882 0.4051 None gnomAD-4.0.0 1.98331E-05
35688 82 C/S 169 rs878952929 0.1789 None gnomAD-2.1.1 4.03E-06
35688 82 C/S 169 rs878952929 0.1789 None gnomAD-4.0.0 1.59203E-06
35689 83 Q/R 171 rs1451601178 0.3227 None gnomAD-2.1.1 4.03E-06
35689 83 Q/R 171 rs1451601178 0.3227 None gnomAD-4.0.0 1.36872E-05
35690 84 Y/C 172 rs759928440 0.1438 None gnomAD-2.1.1 4.03E-06
35690 84 Y/C 172 rs759928440 0.1438 None gnomAD-4.0.0 1.59206E-06
35690 84 Y/H 172 rs879023680 0.1438 None gnomAD-3.1.2 6.57E-06
35690 84 Y/H 172 rs879023680 0.1438 None gnomAD-4.0.0 6.57056E-06
35690 84 Y/N 172 None 0.1438 None gnomAD-4.0.0 1.59207E-06
35693 87 T/K 175 None 0.3833 None gnomAD-4.0.0 3.18511E-06
35693 87 T/P 175 None 0.3833 None gnomAD-4.0.0 1.59245E-06
35694 88 L/P 176 rs761325938 0.2961 None gnomAD-2.1.1 8.08E-06
35694 88 L/P 176 rs761325938 0.2961 None gnomAD-4.0.0 6.36961E-06
35694 88 L/V 176 rs769369764 0.2961 None gnomAD-2.1.1 7.89E-05
35694 88 L/V 176 rs769369764 0.2961 None gnomAD-3.1.2 5.26E-05
35694 88 L/V 176 rs769369764 0.2961 None gnomAD-4.0.0 4.40085E-05