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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30822 2 P/L 2 None 0.1254 None gnomAD-4.0.0 4.80129E-06
30822 2 P/R 2 None 0.1254 None gnomAD-4.0.0 1.20032E-06
30823 3 G/S 3 rs727504934 0.2510 None gnomAD-2.1.1 5.22E-05
30823 3 G/S 3 rs727504934 0.2510 None gnomAD-3.1.2 1.31E-05
30823 3 G/S 3 rs727504934 0.2510 None gnomAD-4.0.0 3.03661E-05
30824 4 P/R 4 rs1364127443 0.3978 None gnomAD-2.1.1 4.02E-06
30824 4 P/R 4 rs1364127443 0.3978 None gnomAD-4.0.0 1.59125E-06
30824 4 P/S 4 rs757687130 0.3978 None gnomAD-2.1.1 4.02E-06
30824 4 P/S 4 rs757687130 0.3978 None gnomAD-3.1.2 6.57E-06
30824 4 P/S 4 rs757687130 0.3978 None gnomAD-4.0.0 8.96778E-06
30825 5 P/S 5 rs1321331072 0.1230 None gnomAD-2.1.1 4.02E-06
30825 5 P/S 5 rs1321331072 0.1230 None gnomAD-4.0.0 4.77363E-06
30826 6 T/I 6 None 0.5268 None gnomAD-4.0.0 3.18242E-06
30828 8 V/A 9 None 0.1784 None gnomAD-4.0.0 1.59119E-06
30828 8 V/I 9 rs754257799 0.1784 None gnomAD-2.1.1 4.02E-06
30829 9 K/N 11 rs764294218 0.3829 None gnomAD-2.1.1 4.02E-06
30829 9 K/N 11 rs764294218 0.3829 None gnomAD-4.0.0 4.77351E-06
30830 10 V/I 12 rs376287060 0.2295 None gnomAD-2.1.1 3.92E-05
30830 10 V/I 12 rs376287060 0.2295 None gnomAD-3.1.2 6.57E-06
30830 10 V/I 12 rs376287060 0.2295 None gnomAD-4.0.0 2.35485E-05
30833 13 T/I 15 rs727505334 0.1883 None gnomAD-2.1.1 4.02E-06
30833 13 T/I 15 rs727505334 0.1883 None gnomAD-4.0.0 1.59115E-06
30836 16 T/I 18 None 0.4081 None gnomAD-4.0.0 2.40064E-06
30836 16 T/P 18 rs762590394 0.4081 None gnomAD-2.1.1 1.64091E-04
30836 16 T/P 18 rs762590394 0.4081 None gnomAD-3.1.2 4.6E-05
30836 16 T/P 18 rs762590394 0.4081 None gnomAD-4.0.0 1.01006E-04
30837 17 T/S 19 None 0.2452 None gnomAD-4.0.0 1.20032E-06
30838 18 V/A 20 None 0.0960 None gnomAD-4.0.0 6.84207E-07
30838 18 V/G 20 None 0.0960 None gnomAD-4.0.0 2.05265E-06
30840 20 L/F 22 rs772574748 0.1197 None gnomAD-2.1.1 1.21E-05
30840 20 L/F 22 rs772574748 0.1197 None gnomAD-4.0.0 6.36444E-06
30840 20 L/S 22 rs1466809738 0.1197 None gnomAD-2.1.1 1.21E-05
30840 20 L/S 22 rs1466809738 0.1197 None gnomAD-4.0.0 4.78927E-06
30841 21 E/G 23 rs761617318 0.3838 None gnomAD-2.1.1 7.14E-06
30841 21 E/G 23 rs761617318 0.3838 None gnomAD-3.1.2 1.31E-05
30841 21 E/G 23 rs761617318 0.3838 None gnomAD-4.0.0 1.31423E-05
30841 21 E/Q 23 rs765241194 0.3838 None gnomAD-2.1.1 4.02E-06
30841 21 E/Q 23 rs765241194 0.3838 None gnomAD-4.0.0 1.5911E-06
30842 22 W/C 24 None 0.1152 None gnomAD-4.0.0 1.20032E-06
30845 25 P/L 27 rs776489830 0.1573 None gnomAD-3.1.2 1.31E-05
30845 25 P/L 27 rs776489830 0.1573 None gnomAD-4.0.0 3.0984E-06
30845 25 P/S 27 rs1314867474 0.1573 None gnomAD-3.1.2 6.57E-06
30845 25 P/S 27 rs1314867474 0.1573 None gnomAD-4.0.0 6.57479E-06
30846 26 V/A 28 rs77968867 0.9539 None gnomAD-2.1.1 8.10008E-04
30846 26 V/A 28 rs77968867 0.9539 None gnomAD-3.1.2 2.45952E-03
30846 26 V/A 28 rs77968867 0.9539 None 1000 genomes 2.79553E-03
30846 26 V/A 28 rs77968867 0.9539 None gnomAD-4.0.0 4.58552E-04
30847 27 F/S 29 rs906140300 0.5727 None gnomAD-4.0.0 2.05255E-06
30848 28 D/A 30 rs746794842 0.3220 None gnomAD-2.1.1 1.21E-05
30848 28 D/A 30 rs746794842 0.3220 None gnomAD-3.1.2 6.57E-06
30848 28 D/A 30 rs746794842 0.3220 None gnomAD-4.0.0 8.67516E-06
30848 28 D/H 30 None 0.3220 None gnomAD-4.0.0 6.84181E-07
30848 28 D/N 30 None 0.3220 None gnomAD-4.0.0 1.36836E-06
30851 31 M/I 33 rs1233656896 0.3676 None gnomAD-2.1.1 4.02E-06
30851 31 M/I 33 rs1233656896 0.3676 None gnomAD-4.0.0 1.59113E-06
30851 31 M/R 33 rs1206527 0.3676 None gnomAD-2.1.1 8.04E-06
30851 31 M/R 33 rs1206527 0.3676 None gnomAD-3.1.2 1.31E-05
30851 31 M/R 33 rs1206527 0.3676 None gnomAD-4.0.0 5.57704E-06
30852 32 E/K 34 rs772252611 0.8668 None gnomAD-2.1.1 4.02E-06
30852 32 E/K 34 rs772252611 0.8668 None gnomAD-3.1.2 6.57E-06
30852 32 E/K 34 rs772252611 0.8668 None gnomAD-4.0.0 4.33768E-06
30854 34 I/T 36 rs368427408 0.4169 None gnomAD-2.1.1 3.93E-05
30854 34 I/T 36 rs368427408 0.4169 None gnomAD-3.1.2 3.29E-05
30854 34 I/T 36 rs368427408 0.4169 None gnomAD-4.0.0 2.16892E-05
30855 35 G/V 37 rs778812675 0.0992 None gnomAD-2.1.1 2.01E-05
30855 35 G/V 37 rs778812675 0.0992 None gnomAD-3.1.2 1.32E-05
30855 35 G/V 37 rs778812675 0.0992 None gnomAD-4.0.0 2.47881E-05
30856 36 Y/C 38 rs1698314860 0.1100 None gnomAD-3.1.2 6.57E-06
30856 36 Y/C 38 rs1698314860 0.1100 None gnomAD-4.0.0 2.56197E-06
30858 38 I/T 40 rs1463927651 0.0713 None gnomAD-2.1.1 4.02E-06
30858 38 I/T 40 rs1463927651 0.0713 None gnomAD-3.1.2 6.57E-06
30858 38 I/T 40 rs1463927651 0.0713 None gnomAD-4.0.0 4.33767E-06
30860 40 M/I 42 None 0.1740 None gnomAD-4.0.0 6.84174E-07
30861 41 C/F 43 None 0.0690 None gnomAD-4.0.0 1.36836E-06
30861 41 C/R 43 rs2154147860 0.0690 None gnomAD-4.0.0 1.20032E-06
30861 41 C/Y 43 rs1045877862 0.0690 None gnomAD-2.1.1 8.04E-06
30861 41 C/Y 43 rs1045877862 0.0690 None gnomAD-4.0.0 3.42089E-06
30862 42 K/N 44 None 0.2419 None gnomAD-4.0.0 2.05253E-06
30863 43 A/T 50 rs1175884597 0.2719 None gnomAD-4.0.0 3.18213E-06
30863 43 A/V 50 None 0.2719 None gnomAD-4.0.0 2.05253E-06
30864 44 D/N 54 rs200621611 0.6305 None gnomAD-2.1.1 8.57E-05
30864 44 D/N 54 rs200621611 0.6305 None gnomAD-3.1.2 5.91E-05
30864 44 D/N 54 rs200621611 0.6305 None 1000 genomes 1.99681E-04
30864 44 D/N 54 rs200621611 0.6305 None gnomAD-4.0.0 6.87782E-05
30865 45 L/F 60 rs192086736 0.6736 None gnomAD-3.1.2 6.57E-06
30865 45 L/F 60 rs192086736 0.6736 None gnomAD-4.0.0 6.57022E-06
30871 51 V/A 68 rs756610221 0.2189 None gnomAD-2.1.1 4.82E-05
30871 51 V/A 68 rs756610221 0.2189 None gnomAD-4.0.0 2.06839E-05
30871 51 V/M 68 None 0.2189 None gnomAD-4.0.0 1.59105E-06
30873 53 A/T 70 None 0.6956 None gnomAD-4.0.0 1.59107E-06
30874 54 E/K 72 None 0.9307 None gnomAD-4.0.0 1.59108E-06
30875 55 A/G 75 rs1248087390 0.2793 None gnomAD-2.1.1 8.04E-06
30875 55 A/G 75 rs1248087390 0.2793 None gnomAD-3.1.2 6.57E-06
30875 55 A/G 75 rs1248087390 0.2793 None gnomAD-4.0.0 3.22228E-05
30875 55 A/P 75 rs753079465 0.2793 None gnomAD-2.1.1 8.04E-06
30875 55 A/P 75 rs753079465 0.2793 None gnomAD-4.0.0 2.05253E-06
30875 55 A/S 75 None 0.2793 None gnomAD-4.0.0 6.84175E-07
30875 55 A/T 75 rs753079465 0.2793 None gnomAD-3.1.2 6.57E-06
30875 55 A/T 75 rs753079465 0.2793 None gnomAD-4.0.0 1.859E-06
30876 56 C/Y 77 None 0.1567 None gnomAD-4.0.0 6.84171E-07
30877 57 V/M 83 None 0.8071 None gnomAD-4.0.0 3.18218E-06
30878 58 K/I 88 rs1279509755 0.7532 None gnomAD-2.1.1 4.02E-06
30882 62 T/R 92 None 0.3607 None gnomAD-4.0.0 2.40065E-06
30883 63 V/I 93 None 0.1137 None gnomAD-4.0.0 1.20032E-06
30884 64 T/N 94 rs1698294296 0.4500 None gnomAD-3.1.2 6.57E-06
30884 64 T/N 94 rs1698294296 0.4500 None gnomAD-4.0.0 1.23933E-06
30886 66 L/P 97 rs1462587732 0.1146 None gnomAD-3.1.2 6.57E-06
30886 66 L/P 97 rs1462587732 0.1146 None gnomAD-4.0.0 6.57047E-06
30886 66 L/V 97 rs1234175458 0.1146 None gnomAD-2.1.1 4.02E-06
30886 66 L/V 97 rs1234175458 0.1146 None gnomAD-3.1.2 6.57E-06
30886 66 L/V 97 rs1234175458 0.1146 None gnomAD-4.0.0 2.56196E-06
30888 68 A/E 99 None 0.4540 None gnomAD-4.0.0 6.8418E-07
30888 68 A/V 99 rs1393497190 0.4540 None gnomAD-2.1.1 4.02E-06
30888 68 A/V 99 rs1393497190 0.4540 None gnomAD-4.0.0 2.05254E-06
30889 69 G/D 100 rs727505280 0.2843 None gnomAD-2.1.1 1.21E-05
30889 69 G/D 100 rs727505280 0.2843 None gnomAD-3.1.2 1.97E-05
30889 69 G/D 100 rs727505280 0.2843 None gnomAD-4.0.0 5.20514E-05
30890 70 E/G 102 None 0.3269 None gnomAD-4.0.0 1.20032E-06
30890 70 E/K 102 None 0.3269 None gnomAD-4.0.0 1.59108E-06
30890 70 E/V 102 None 0.3269 None gnomAD-4.0.0 1.20032E-06
30891 71 E/Q 103 None 0.3800 None gnomAD-4.0.0 1.20032E-06
30892 72 Y/H 104 None 0.1090 None gnomAD-4.0.0 3.60097E-06
30893 73 K/E 105 rs370541682 0.3512 None gnomAD-2.1.1 3.21E-05
30893 73 K/E 105 rs370541682 0.3512 None gnomAD-3.1.2 9.85E-05
30893 73 K/E 105 rs370541682 0.3512 None gnomAD-4.0.0 2.23072E-05
30895 75 R/P 107 rs200141081 0.1573 None gnomAD-2.1.1 4.02E-06
30895 75 R/P 107 rs200141081 0.1573 None gnomAD-4.0.0 6.84178E-07
30895 75 R/Q 107 rs200141081 0.1573 None gnomAD-2.1.1 1.17785E-04
30895 75 R/Q 107 rs200141081 0.1573 None gnomAD-3.1.2 1.44577E-04
30895 75 R/Q 107 rs200141081 0.1573 None gnomAD-4.0.0 1.89617E-04
30897 77 S/G 109 None 0.1033 None gnomAD-4.0.0 1.59107E-06
30898 78 A/T 110 None 0.0962 None gnomAD-4.0.0 1.20032E-06
30899 79 I/T 111 rs373727636 0.2265 None gnomAD-2.1.1 2.2483E-04
30899 79 I/T 111 rs373727636 0.2265 None gnomAD-3.1.2 1.70826E-04
30899 79 I/T 111 rs373727636 0.2265 None 1000 genomes 1.99681E-04
30899 79 I/T 111 rs373727636 0.2265 None gnomAD-4.0.0 2.15622E-04
30900 80 N/D 112 rs1452525804 0.1029 None gnomAD-2.1.1 4.02E-06
30900 80 N/D 112 rs1452525804 0.1029 None gnomAD-4.0.0 1.36836E-06
30900 80 N/S 112 rs186234393 0.1029 None gnomAD-2.1.1 3.31873E-04
30900 80 N/S 112 rs186234393 0.1029 None gnomAD-3.1.2 1.64271E-04
30900 80 N/S 112 rs186234393 0.1029 None 1000 genomes 7.98722E-04
30900 80 N/S 112 rs186234393 0.1029 None gnomAD-4.0.0 9.72786E-05
30901 81 G/D 113 rs879214233 0.4762 None gnomAD-3.1.2 1.31E-05
30901 81 G/D 113 rs879214233 0.4762 None gnomAD-4.0.0 1.31435E-05
30902 82 A/S 114 rs749405049 0.4495 None gnomAD-4.0.0 1.59111E-06
30902 82 A/V 114 None 0.4495 None gnomAD-4.0.0 1.59111E-06
30904 84 K/E 117 rs370265204 0.3629 None gnomAD-2.1.1 2.85E-05
30904 84 K/E 117 rs370265204 0.3629 None gnomAD-3.1.2 7.88E-05
30904 84 K/E 117 rs370265204 0.3629 None 1000 genomes 1.99681E-04
30904 84 K/E 117 rs370265204 0.3629 None gnomAD-4.0.0 2.5404E-05
30905 85 G/V 118 rs1698268798 0.1586 None gnomAD-3.1.2 6.57E-06
30905 85 G/V 118 rs1698268798 0.1586 None gnomAD-4.0.0 2.56197E-06
30906 86 D/E 119 rs749379446 0.8352 None gnomAD-2.1.1 4.02E-06
30906 86 D/E 119 rs749379446 0.8352 None gnomAD-4.0.0 1.36837E-06
30906 86 D/G 119 None 0.8352 None gnomAD-4.0.0 1.20032E-06
30906 86 D/N 119 rs534881266 0.8352 None gnomAD-2.1.1 5E-05
30906 86 D/N 119 rs534881266 0.8352 None gnomAD-3.1.2 3.94E-05
30906 86 D/N 119 rs534881266 0.8352 None 1000 genomes 1.99681E-04
30906 86 D/N 119 rs534881266 0.8352 None gnomAD-4.0.0 4.15152E-05
30908 88 C/Y 121 None 0.1733 None gnomAD-4.0.0 1.5912E-06
30909 89 E/K 122 rs1486624506 0.3815 None gnomAD-4.0.0 6.84199E-07
30909 89 E/Q 122 rs1486624506 0.3815 None gnomAD-2.1.1 4.02E-06
30909 89 E/Q 122 rs1486624506 0.3815 None gnomAD-3.1.2 6.57E-06
30909 89 E/Q 122 rs1486624506 0.3815 None gnomAD-4.0.0 3.09835E-06
30910 90 V/M 123 rs1698264334 0.2081 None gnomAD-4.0.0 1.59119E-06
30911 91 T/I 124 rs1258281031 1.0707 None gnomAD-2.1.1 8.04E-06
30911 91 T/I 124 rs1258281031 1.0707 None gnomAD-4.0.0 4.77386E-06
30911 91 T/N 124 rs1258281031 1.0707 None gnomAD-4.0.0 1.90954E-05
30911 91 T/S 124 None 1.0707 None gnomAD-4.0.0 1.20032E-06
30912 92 G/S 125 rs1698262497 0.4725 None gnomAD-4.0.0 3.18261E-06
30913 93 T/I 126 rs778462222 0.4527 None gnomAD-2.1.1 4.02E-06
30913 93 T/I 126 rs778462222 0.4527 None gnomAD-4.0.0 1.59133E-06
30913 93 T/K 126 rs778462222 0.4527 None gnomAD-4.0.0 3.18267E-06
30914 94 I/S 127 rs951807675 0.2109 None gnomAD-2.1.1 4.02E-06
30915 95 K/E 129 None 0.4118 None gnomAD-4.0.0 1.20032E-06
30916 96 A/E 130 None 0.0774 None gnomAD-4.0.0 6.84241E-07
30916 96 A/V 130 rs770400064 0.0774 None gnomAD-2.1.1 4.02E-06
30916 96 A/V 130 rs770400064 0.0774 None gnomAD-4.0.0 6.84241E-07
30917 97 V/A 131 rs748545482 0.3167 None gnomAD-2.1.1 2.81E-05
30917 97 V/A 131 rs748545482 0.3167 None gnomAD-3.1.2 6.57E-06
30917 97 V/A 131 rs748545482 0.3167 None gnomAD-4.0.0 2.29297E-05
30917 97 V/I 131 None 0.3167 None gnomAD-4.0.0 1.20032E-06
30918 98 D/Y 132 rs781654770 0.4502 None gnomAD-2.1.1 8.04E-06
30918 98 D/Y 132 rs781654770 0.4502 None gnomAD-4.0.0 6.1582E-06