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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25798 1 P/T 1 rs1246528312 0.1627 None gnomAD-2.1.1 4.04E-06
25798 1 P/T 1 rs1246528312 0.1627 None gnomAD-4.0.0 1.59289E-06
25800 3 V/A 3 None 0.1357 None gnomAD-4.0.0 1.20032E-06
25801 4 K/T 4 None 0.5692 None gnomAD-4.0.0 1.5926E-06
25802 5 P/L 5 None 0.3032 None gnomAD-4.0.0 2.05337E-06
25803 6 A/E 7 rs1706938707 0.3848 None gnomAD-3.1.2 6.58E-06
25803 6 A/E 7 rs1706938707 0.3848 None gnomAD-4.0.0 6.57704E-06
25803 6 A/T 7 None 0.3848 None gnomAD-4.0.0 1.5926E-06
25803 6 A/V 7 rs1706938707 0.3848 None gnomAD-3.1.2 6.58E-06
25803 6 A/V 7 rs1706938707 0.3848 None gnomAD-4.0.0 6.57704E-06
25804 7 F/C 8 None 0.6110 None gnomAD-4.0.0 4.80129E-06
25804 7 F/L 8 rs536177370 0.6110 None gnomAD-2.1.1 8.08E-06
25804 7 F/L 8 rs536177370 0.6110 None gnomAD-3.1.2 6.58E-06
25804 7 F/L 8 rs536177370 0.6110 None 1000 genomes 1.99681E-04
25804 7 F/L 8 rs536177370 0.6110 None gnomAD-4.0.0 8.97282E-06
25805 8 S/G 9 None 0.6725 None gnomAD-4.0.0 1.36885E-06
25805 8 S/N 9 None 0.6725 None gnomAD-4.0.0 4.77713E-06
25806 9 S/N 11 rs1405741278 0.3782 None gnomAD-3.1.2 1.32E-05
25806 9 S/N 11 rs1405741278 0.3782 None gnomAD-4.0.0 2.47957E-06
25806 9 S/R 11 rs759686148 0.3782 None gnomAD-4.0.0 1.20032E-06
25807 10 Y/C 13 rs774704941 0.2102 None gnomAD-2.1.1 4.04E-06
25807 10 Y/C 13 rs774704941 0.2102 None gnomAD-4.0.0 1.59231E-06
25808 11 S/R 14 rs1415635107 0.4982 None gnomAD-3.1.2 6.57E-06
25808 11 S/R 14 rs1415635107 0.4982 None gnomAD-4.0.0 6.57419E-06
25808 11 S/T 14 None 0.4982 None gnomAD-4.0.0 1.20032E-06
25809 12 V/A 16 rs367819941 0.1732 None gnomAD-2.1.1 4.04E-06
25809 12 V/A 16 rs367819941 0.1732 None gnomAD-4.0.0 1.59225E-06
25810 13 Q/H 18 None 0.4936 None gnomAD-4.0.0 1.20032E-06
25810 13 Q/P 18 None 0.4936 None gnomAD-4.0.0 1.59226E-06
25811 14 V/I 23 rs1295057391 0.2647 None gnomAD-2.1.1 4.04E-06
25811 14 V/I 23 rs1295057391 0.2647 None gnomAD-4.0.0 4.77672E-06
25812 15 G/S 24 None 0.2888 None gnomAD-4.0.0 1.59228E-06
25814 17 D/Y 26 rs1432951481 0.5348 None gnomAD-2.1.1 3.19E-05
25814 17 D/Y 26 rs1432951481 0.5348 None gnomAD-4.0.0 5.47519E-06
25815 18 L/F 28 rs777970390 0.2095 None gnomAD-2.1.1 4.04E-06
25815 18 L/F 28 rs777970390 0.2095 None gnomAD-4.0.0 2.05316E-06
25815 18 L/W 28 None 0.2095 None gnomAD-4.0.0 1.59222E-06
25817 20 I/T 30 rs770455270 0.1123 None gnomAD-2.1.1 1.61E-05
25817 20 I/T 30 rs770455270 0.1123 None gnomAD-3.1.2 6.58E-06
25817 20 I/T 30 rs770455270 0.1123 None gnomAD-4.0.0 6.40999E-06
25818 21 E/A 31 rs781425261 0.4408 None gnomAD-2.1.1 2.42E-05
25818 21 E/A 31 rs781425261 0.4408 None gnomAD-4.0.0 1.1145E-05
25818 21 E/K 31 rs748619096 0.4408 None gnomAD-2.1.1 8.07E-06
25818 21 E/K 31 rs748619096 0.4408 None gnomAD-3.1.2 6.58E-06
25818 21 E/K 31 rs748619096 0.4408 None gnomAD-4.0.0 1.61164E-05
25819 22 V/L 33 rs764950661 0.1020 None gnomAD-3.1.2 6.58E-06
25819 22 V/L 33 rs764950661 0.1020 None gnomAD-4.0.0 6.57834E-06
25819 22 V/M 33 rs764950661 0.1020 None gnomAD-3.1.2 6.58E-06
25819 22 V/M 33 rs764950661 0.1020 None gnomAD-4.0.0 5.57896E-06
25821 24 I/L 35 None 0.1291 None gnomAD-4.0.0 1.59212E-06
25822 25 S/P 38 None 0.4711 None gnomAD-4.0.0 1.59211E-06
25824 27 R/C 41 rs778684474 0.5774 None gnomAD-2.1.1 2.02E-05
25824 27 R/C 41 rs778684474 0.5774 None gnomAD-4.0.0 2.19E-05
25824 27 R/H 41 rs376051922 0.5774 None gnomAD-2.1.1 2.51E-05
25824 27 R/H 41 rs376051922 0.5774 None gnomAD-3.1.2 3.95E-05
25824 27 R/H 41 rs376051922 0.5774 None gnomAD-4.0.0 4.40115E-05
25824 27 R/L 41 rs376051922 0.5774 None gnomAD-2.1.1 3.19E-05
25824 27 R/L 41 rs376051922 0.5774 None gnomAD-3.1.2 6.58E-06
25824 27 R/L 41 rs376051922 0.5774 None gnomAD-4.0.0 1.23976E-06
25825 28 P/R 42 rs1177838501 0.5142 None gnomAD-2.1.1 6.37E-05
25825 28 P/R 42 rs1177838501 0.5142 None gnomAD-3.1.2 1.32E-05
25825 28 P/R 42 rs1177838501 0.5142 None gnomAD-4.0.0 1.31537E-05
25825 28 P/S 42 None 0.5142 None gnomAD-4.0.0 1.20032E-06
25827 30 P/A 44 rs1352689122 0.1563 None gnomAD-3.1.2 6.58E-06
25827 30 P/A 44 rs1352689122 0.1563 None gnomAD-4.0.0 2.56375E-06
25828 31 T/N 45 rs763550644 0.6583 None gnomAD-2.1.1 1.21E-05
25828 31 T/N 45 rs763550644 0.6583 None gnomAD-3.1.2 1.32E-05
25828 31 T/N 45 rs763550644 0.6583 None gnomAD-4.0.0 4.15314E-05
25830 33 T/N 47 rs1475904379 0.5322 None gnomAD-2.1.1 4.04E-06
25830 33 T/N 47 rs1475904379 0.5322 None gnomAD-4.0.0 1.59205E-06
25830 33 T/S 47 rs1475904379 0.5322 None gnomAD-2.1.1 4.04E-06
25831 34 W/R 48 None 0.1904 None gnomAD-4.0.0 9.6026E-06
25832 35 T/A 49 rs1196912169 0.2220 None gnomAD-2.1.1 4.04E-06
25832 35 T/A 49 rs1196912169 0.2220 None gnomAD-4.0.0 1.59205E-06
25832 35 T/I 49 None 0.2220 None gnomAD-4.0.0 1.59202E-06
25832 35 T/N 49 rs1706884873 0.2220 None gnomAD-3.1.2 6.58E-06
25832 35 T/N 49 rs1706884873 0.2220 None gnomAD-4.0.0 6.57696E-06
25835 38 G/D 52 None 0.4749 None gnomAD-4.0.0 1.5921E-06
25837 40 P/L 56 rs752618930 0.6750 None gnomAD-2.1.1 8.07E-06
25837 40 P/L 56 rs752618930 0.6750 None gnomAD-4.0.0 1.59203E-06
25837 40 P/R 56 None 0.6750 None gnomAD-4.0.0 1.59203E-06
25839 42 K/Q 59 rs1371831965 0.9414 None gnomAD-4.0.0 6.8435E-06
25839 42 K/R 59 None 0.9414 None gnomAD-4.0.0 2.05306E-06
25841 44 T/I 73 None 0.3714 None gnomAD-4.0.0 1.20032E-06
25842 45 T/A 109 rs759436335 1.0156 None gnomAD-2.1.1 4.04E-06
25842 45 T/A 109 rs759436335 1.0156 None gnomAD-4.0.0 1.59198E-06
25842 45 T/I 109 None 1.0156 None gnomAD-4.0.0 1.59198E-06
25843 46 R/G 115 rs773999364 0.2155 None gnomAD-2.1.1 4.04E-06
25843 46 R/G 115 rs773999364 0.2155 None gnomAD-3.1.2 6.58E-06
25843 46 R/G 115 rs773999364 0.2155 None gnomAD-4.0.0 2.47933E-06
25843 46 R/K 115 rs1706876007 0.2155 None gnomAD-3.1.2 6.58E-06
25843 46 R/K 115 rs1706876007 0.2155 None gnomAD-4.0.0 1.85959E-06
25843 46 R/S 115 rs2154167135 0.2155 None gnomAD-4.0.0 1.59196E-06
25843 46 R/T 115 None 0.2155 None gnomAD-4.0.0 1.16339E-05
25844 47 I/F 121 rs1216073181 0.1742 None gnomAD-4.0.0 1.59197E-06
25844 47 I/V 121 rs1216073181 0.1742 None gnomAD-2.1.1 4.04E-06
25844 47 I/V 121 rs1216073181 0.1742 None gnomAD-4.0.0 1.59197E-06
25847 50 T/I 125 rs917984063 0.5957 None gnomAD-2.1.1 3.19E-05
25847 50 T/I 125 rs917984063 0.5957 None gnomAD-3.1.2 6.58E-06
25847 50 T/I 125 rs917984063 0.5957 None gnomAD-4.0.0 8.6779E-06
25848 51 D/A 127 rs773448900 0.4726 None gnomAD-2.1.1 4.04E-06
25848 51 D/N 127 rs763227305 0.4726 None gnomAD-2.1.1 2.42E-05
25848 51 D/N 127 rs763227305 0.4726 None gnomAD-3.1.2 1.97E-05
25848 51 D/N 127 rs763227305 0.4726 None gnomAD-4.0.0 2.35551E-05
25852 55 L/I 135 None 0.2055 None gnomAD-4.0.0 1.59195E-06
25852 55 L/V 135 None 0.2055 None gnomAD-4.0.0 1.59195E-06
25853 56 T/N 136 None 0.0951 None gnomAD-4.0.0 6.84332E-07
25853 56 T/S 136 None 0.0951 None gnomAD-4.0.0 6.84332E-07
25854 57 T/I 137 rs886055245 0.1530 None gnomAD-2.1.1 3.19E-05
25854 57 T/I 137 rs886055245 0.1530 None gnomAD-3.1.2 6.58E-06
25854 57 T/I 137 rs886055245 0.1530 None gnomAD-4.0.0 2.56333E-06
25855 58 L/F 138 rs1409816119 0.1048 None gnomAD-2.1.1 4.04E-06
25855 58 L/F 138 rs1409816119 0.1048 None gnomAD-4.0.0 1.59192E-06
25856 59 S/G 139 None 0.2329 None gnomAD-4.0.0 1.20032E-06
25856 59 S/N 139 None 0.2329 None gnomAD-4.0.0 3.18377E-06
25857 60 I/N 140 rs781755787 0.1104 None gnomAD-2.1.1 8.07E-06
25857 60 I/N 140 rs781755787 0.1104 None gnomAD-4.0.0 1.36867E-06
25857 60 I/T 140 None 0.1104 None gnomAD-4.0.0 6.84333E-07
25857 60 I/V 140 rs878865219 0.1104 None gnomAD-4.0.0 4.10596E-06
25859 62 E/D 143 None 0.7453 None gnomAD-4.0.0 1.59193E-06
25859 62 E/K 143 rs1706857293 0.7453 None gnomAD-3.1.2 6.58E-06
25859 62 E/K 143 rs1706857293 0.7453 None gnomAD-4.0.0 6.57765E-06
25861 64 H/L 145 rs769029689 0.4163 None gnomAD-4.0.0 8.21246E-06
25861 64 H/P 145 rs769029689 0.4163 None gnomAD-2.1.1 4.04E-06
25861 64 H/P 145 rs769029689 0.4163 None gnomAD-4.0.0 6.84377E-07
25862 65 K/M 146 rs1410859942 0.4457 None gnomAD-2.1.1 7.16E-06
25862 65 K/M 146 rs1410859942 0.4457 None gnomAD-3.1.2 6.57E-06
25862 65 K/M 146 rs1410859942 0.4457 None gnomAD-4.0.0 3.84481E-06
25862 65 K/N 146 rs747449030 0.4457 None gnomAD-4.0.0 4.79036E-06
25862 65 K/R 146 None 0.4457 None gnomAD-4.0.0 1.59193E-06
25863 66 D/G 148 rs1171070025 0.5110 None gnomAD-4.0.0 1.59193E-06
25864 67 D/E 149 None 0.1867 None gnomAD-4.0.0 1.20033E-06
25864 67 D/G 149 rs780362373 0.1867 None gnomAD-2.1.1 8.07E-06
25864 67 D/G 149 rs780362373 0.1867 None gnomAD-3.1.2 1.31E-05
25864 67 D/G 149 rs780362373 0.1867 None gnomAD-4.0.0 3.84479E-06
25864 67 D/N 149 None 0.1867 None gnomAD-4.0.0 1.20033E-06
25865 68 G/D 151 rs756930121 0.2288 None gnomAD-2.1.1 8.07E-06
25865 68 G/D 151 rs756930121 0.2288 None gnomAD-4.0.0 3.18384E-06
25865 68 G/S 151 None 0.2288 None gnomAD-4.0.0 3.42169E-06
25866 69 G/A 152 rs748887998 0.2178 None gnomAD-2.1.1 4.03E-06
25867 70 Q/L 153 rs1706845925 0.2879 None gnomAD-3.1.2 6.57E-06
25867 70 Q/L 153 rs1706845925 0.2879 None gnomAD-4.0.0 6.57471E-06
25867 70 Q/P 153 None 0.2879 None gnomAD-4.0.0 1.20034E-06
25868 71 Y/H 154 rs755691336 0.1196 None gnomAD-2.1.1 4.65E-05
25868 71 Y/H 154 rs755691336 0.1196 None gnomAD-3.1.2 1.32E-05
25868 71 Y/H 154 rs755691336 0.1196 None gnomAD-4.0.0 1.36367E-05
25869 72 G/R 155 None 0.1531 None gnomAD-4.0.0 1.20034E-06
25870 73 I/L 156 rs767544449 0.0858 None gnomAD-2.1.1 4.03E-06
25870 73 I/T 156 rs754843336 0.0858 None gnomAD-2.1.1 4.03E-06
25870 73 I/T 156 rs754843336 0.0858 None gnomAD-4.0.0 3.42176E-06
25871 74 T/I 157 None 0.2290 None gnomAD-4.0.0 1.592E-06
25873 76 A/G 159 rs751402631 0.1730 None gnomAD-2.1.1 1.21E-05
25873 76 A/G 159 rs751402631 0.1730 None gnomAD-4.0.0 4.7761E-06
25873 76 A/V 159 rs751402631 0.1730 None gnomAD-2.1.1 2.42E-05
25873 76 A/V 159 rs751402631 0.1730 None gnomAD-4.0.0 9.55219E-06
25874 77 N/D 161 None 0.1486 None gnomAD-4.0.0 6.84341E-07
25874 77 N/H 161 None 0.1486 None gnomAD-4.0.0 6.84341E-07
25874 77 N/K 161 rs766227814 0.1486 None gnomAD-2.1.1 9.56E-05
25874 77 N/K 161 rs766227814 0.1486 None gnomAD-3.1.2 3.29E-05
25874 77 N/K 161 rs766227814 0.1486 None gnomAD-4.0.0 3.71907E-06
25874 77 N/S 161 rs1706835764 0.1486 None gnomAD-4.0.0 1.59199E-06
25875 78 V/A 162 rs370374073 0.7634 None gnomAD-2.1.1 3.94E-05
25875 78 V/A 162 rs370374073 0.7634 None gnomAD-3.1.2 9.21E-05
25875 78 V/A 162 rs370374073 0.7634 None gnomAD-4.0.0 1.67358E-05
25875 78 V/I 162 rs763284241 0.7634 None gnomAD-2.1.1 2.82E-05
25875 78 V/I 162 rs763284241 0.7634 None gnomAD-3.1.2 6.58E-06
25875 78 V/I 162 rs763284241 0.7634 None gnomAD-4.0.0 5.57852E-06
25875 78 V/L 162 rs763284241 0.7634 None gnomAD-2.1.1 4.03E-06
25875 78 V/L 162 rs763284241 0.7634 None gnomAD-4.0.0 6.84346E-07
25876 79 V/A 163 None 0.7863 None gnomAD-4.0.0 4.8013E-06
25876 79 V/I 163 rs1439203957 0.7863 None gnomAD-4.0.0 1.20032E-06
25878 81 Q/H 165 rs765550681 0.5896 None gnomAD-2.1.1 8.06E-06
25878 81 Q/H 165 rs765550681 0.5896 None gnomAD-3.1.2 6.57E-06
25878 81 Q/H 165 rs765550681 0.5896 None gnomAD-4.0.0 9.29748E-06
25878 81 Q/K 165 None 0.5896 None gnomAD-4.0.0 1.59208E-06
25878 81 Q/R 165 rs886038876 0.5896 None gnomAD-4.0.0 1.20032E-06
25879 82 K/R 166 None 0.3590 None gnomAD-4.0.0 1.59203E-06
25880 83 T/A 168 rs56018860 0.4394 None gnomAD-2.1.1 2.57414E-02
25880 83 T/A 168 rs56018860 0.4394 None gnomAD-3.1.2 2.02291E-02
25880 83 T/A 168 rs56018860 0.4394 None 1000 genomes 2.23642E-02
25880 83 T/A 168 rs56018860 0.4394 None gnomAD-4.0.0 2.28803E-02
25880 83 T/I 168 rs1332594097 0.4394 None gnomAD-2.1.1 4.03E-06
25880 83 T/I 168 rs1332594097 0.4394 None gnomAD-3.1.2 6.58E-06
25880 83 T/I 168 rs1332594097 0.4394 None gnomAD-4.0.0 1.36367E-05
25881 84 A/V 169 None 0.1988 None gnomAD-4.0.0 1.59208E-06
25882 85 S/F 171 rs1300031734 0.4819 None gnomAD-3.1.2 6.58E-06
25882 85 S/F 171 rs1300031734 0.4819 None gnomAD-4.0.0 6.58033E-06
25883 86 I/T 172 rs1158582678 0.1069 None gnomAD-2.1.1 4.03E-06
25883 86 I/T 172 rs1158582678 0.1069 None gnomAD-4.0.0 1.59207E-06
25883 86 I/V 172 rs769245498 0.1069 None gnomAD-2.1.1 4.03E-06
25883 86 I/V 172 rs769245498 0.1069 None gnomAD-4.0.0 3.18413E-06
25884 87 E/D 173 rs748940985 0.4992 None gnomAD-2.1.1 1.79E-05
25884 87 E/D 173 rs748940985 0.4992 None gnomAD-3.1.2 6.58E-06
25884 87 E/D 173 rs748940985 0.4992 None gnomAD-4.0.0 3.09925E-06
25884 87 E/K 173 rs747699837 0.4992 None gnomAD-2.1.1 2.15E-05
25884 87 E/K 173 rs747699837 0.4992 None gnomAD-3.1.2 1.97E-05
25884 87 E/K 173 rs747699837 0.4992 None gnomAD-4.0.0 2.10757E-05
25885 88 I/T 174 rs199514898 0.1237 None gnomAD-2.1.1 1.03728E-04
25885 88 I/T 174 rs199514898 0.1237 None gnomAD-3.1.2 5.26E-05
25885 88 I/T 174 rs199514898 0.1237 None gnomAD-4.0.0 2.17578E-04
25885 88 I/V 174 None 0.1237 None gnomAD-4.0.0 1.20032E-06
25886 89 V/L 177 rs747738228 0.2874 None gnomAD-2.1.1 1.21E-05
25886 89 V/L 177 rs747738228 0.2874 None gnomAD-4.0.0 1.36874E-06