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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
13780 1 V/L 1 None 0.5486 None gnomAD-4.0.0 1.72771E-06
13781 2 R/C 2 rs768469221 0.6261 None gnomAD-2.1.1 2.43E-05
13781 2 R/C 2 rs768469221 0.6261 None gnomAD-4.0.0 1.4801E-05
13781 2 R/H 2 rs370878642 0.6261 None gnomAD-2.1.1 1.44E-05
13781 2 R/H 2 rs370878642 0.6261 None gnomAD-3.1.2 1.32E-05
13781 2 R/H 2 rs370878642 0.6261 None gnomAD-4.0.0 5.14997E-05
13781 2 R/S 2 rs768469221 0.6261 None gnomAD-2.1.1 4.86E-06
13781 2 R/S 2 rs768469221 0.6261 None gnomAD-3.1.2 6.58E-06
13781 2 R/S 2 rs768469221 0.6261 None gnomAD-4.0.0 4.45638E-06
13783 4 V/A 4 rs2060418351 0.4832 None gnomAD-3.1.2 6.58E-06
13783 4 V/A 4 rs2060418351 0.4832 None gnomAD-4.0.0 6.5754E-06
13784 5 K/N 5 None 0.6819 None gnomAD-4.0.0 3.32251E-06
13784 5 K/R 5 None 0.6819 None gnomAD-4.0.0 1.66562E-06
13785 6 T/A 7 None 0.4833 None gnomAD-4.0.0 2.09016E-06
13787 8 E/Q 9 None 0.6455 None gnomAD-4.0.0 1.64349E-06
13790 11 V/A 13 None 0.2499 None gnomAD-4.0.0 1.37878E-06
13790 11 V/G 13 None 0.2499 None gnomAD-4.0.0 6.8939E-07
13791 12 T/I 14 rs2154230629 0.6439 None gnomAD-3.1.2 6.58E-06
13791 12 T/I 14 rs2154230629 0.6439 None gnomAD-4.0.0 6.57376E-06
13792 13 V/M 16 rs1445036438 0.1610 None gnomAD-4.0.0 2.06631E-06
13793 14 V/A 18 None 0.3480 None gnomAD-4.0.0 1.37447E-06
13794 15 K/R 23 rs944123089 0.3558 None gnomAD-2.1.1 8.18E-06
13794 15 K/R 23 rs944123089 0.3558 None gnomAD-3.1.2 6.57E-06
13794 15 K/R 23 rs944123089 0.3558 None gnomAD-4.0.0 3.7294E-06
13796 17 Q/R 25 rs1165418882 0.4484 None gnomAD-2.1.1 3.19E-05
13796 17 Q/R 25 rs1165418882 0.4484 None gnomAD-3.1.2 6.58E-06
13796 17 Q/R 25 rs1165418882 0.4484 None gnomAD-4.0.0 6.57514E-06
13797 18 P/L 26 rs1205515315 0.3245 None gnomAD-4.0.0 2.74024E-06
13798 19 L/S 28 rs779304267 0.1452 None gnomAD-2.1.1 4.05E-06
13798 19 L/S 28 rs779304267 0.1452 None gnomAD-4.0.0 1.59522E-06
13800 21 L/S 30 None 0.1649 None gnomAD-4.0.0 6.8496E-07
13800 21 L/W 30 rs2060414501 0.1649 None gnomAD-3.1.2 6.58E-06
13800 21 L/W 30 rs2060414501 0.1649 None gnomAD-4.0.0 2.48176E-06
13801 22 S/G 31 None 0.3991 None gnomAD-4.0.0 2.40064E-06
13801 22 S/N 31 rs757590541 0.3991 None gnomAD-2.1.1 1.62E-05
13801 22 S/N 31 rs757590541 0.3991 None gnomAD-3.1.2 6.58E-06
13801 22 S/N 31 rs757590541 0.3991 None gnomAD-4.0.0 3.8493E-06
13802 23 C/Y 33 None 0.1030 None gnomAD-4.0.0 1.59385E-06
13803 24 E/Q 34 None 0.3047 None gnomAD-2.1.1 3.19E-05
13803 24 E/Q 34 None 0.3047 None gnomAD-4.0.0 1.59369E-06
13805 26 N/K 38 rs753262730 0.3053 None gnomAD-2.1.1 8.07E-06
13805 26 N/K 38 rs753262730 0.3053 None gnomAD-4.0.0 1.5932E-06
13806 27 K/N 40 rs767727056 0.6381 None gnomAD-2.1.1 4.04E-06
13806 27 K/N 40 rs767727056 0.6381 None gnomAD-4.0.0 1.59306E-06
13808 29 R/C 44 rs375947044 0.1773 None gnomAD-2.1.1 1.61E-05
13808 29 R/C 44 rs375947044 0.1773 None gnomAD-3.1.2 1.97E-05
13808 29 R/C 44 rs375947044 0.1773 None 1000 genomes 3.99361E-04
13808 29 R/C 44 rs375947044 0.1773 None gnomAD-4.0.0 9.29985E-06
13808 29 R/H 44 rs764850788 0.1773 None gnomAD-2.1.1 2.02E-05
13808 29 R/H 44 rs764850788 0.1773 None gnomAD-3.1.2 6.58E-06
13808 29 R/H 44 rs764850788 0.1773 None gnomAD-4.0.0 5.57979E-06
13808 29 R/S 44 rs375947044 0.1773 None gnomAD-2.1.1 4.03E-06
13808 29 R/S 44 rs375947044 0.1773 None gnomAD-4.0.0 6.84539E-07
13809 30 D/N 45 rs761516226 0.5277 None gnomAD-2.1.1 8.06E-06
13809 30 D/N 45 rs761516226 0.5277 None gnomAD-4.0.0 3.18579E-06
13810 31 V/A 46 rs1167247967 0.2270 None gnomAD-2.1.1 4.03E-06
13810 31 V/A 46 rs1167247967 0.2270 None gnomAD-4.0.0 3.18564E-06
13810 31 V/L 46 None 0.2270 None gnomAD-4.0.0 6.84494E-07
13810 31 V/M 46 rs763668057 0.2270 None gnomAD-2.1.1 2.42E-05
13810 31 V/M 46 rs763668057 0.2270 None gnomAD-3.1.2 1.32E-05
13810 31 V/M 46 rs763668057 0.2270 None gnomAD-4.0.0 4.15381E-05
13811 32 V/I 47 rs920253062 0.3740 None gnomAD-3.1.2 1.32E-05
13811 32 V/I 47 rs920253062 0.3740 None gnomAD-4.0.0 1.3153E-05
13811 32 V/L 47 None 0.3740 None gnomAD-4.0.0 1.20032E-06
13813 34 R/K 49 rs374421638 0.3633 None gnomAD-2.1.1 8.06E-06
13813 34 R/K 49 rs374421638 0.3633 None gnomAD-3.1.2 2.63E-05
13813 34 R/K 49 rs374421638 0.3633 None gnomAD-4.0.0 5.57951E-06
13814 35 K/R 50 None 0.1073 None gnomAD-4.0.0 6.84457E-06
13815 36 D/G 51 rs771949273 0.4699 None gnomAD-2.1.1 1.21E-05
13815 36 D/G 51 rs771949273 0.4699 None gnomAD-3.1.2 6.58E-06
13815 36 D/G 51 rs771949273 0.4699 None gnomAD-4.0.0 7.43927E-06
13816 37 G/R 52 None 0.4649 None gnomAD-4.0.0 3.18511E-06
13816 37 G/S 52 rs1422135009 0.4649 None gnomAD-3.1.2 6.58E-06
13816 37 G/S 52 rs1422135009 0.4649 None gnomAD-4.0.0 5.12839E-06
13818 39 I/N 56 rs929168416 0.6348 None gnomAD-2.1.1 4.03E-06
13818 39 I/N 56 rs929168416 0.6348 None gnomAD-4.0.0 6.84444E-07
13818 39 I/T 56 rs929168416 0.6348 None gnomAD-4.0.0 2.05333E-06
13820 41 V/A 59 rs373963620 0.7656 None gnomAD-4.0.0 4.80129E-06
13820 41 V/M 59 rs376127282 0.7656 None gnomAD-2.1.1 8.05E-06
13820 41 V/M 59 rs376127282 0.7656 None gnomAD-3.1.2 6.58E-06
13820 41 V/M 59 rs376127282 0.7656 None gnomAD-4.0.0 6.41055E-06
13821 42 E/K 70 rs749586891 0.6773 None gnomAD-2.1.1 4.03E-06
13821 42 E/Q 70 rs749586891 0.6773 None gnomAD-2.1.1 4.03E-06
13821 42 E/Q 70 rs749586891 0.6773 None gnomAD-4.0.0 1.5925E-06
13823 44 P/R 74 rs2060403983 0.9202 None gnomAD-4.0.0 1.20032E-06
13825 46 R/G 115 None 0.1841 None gnomAD-4.0.0 4.10659E-06
13825 46 R/L 115 rs727504774 0.1841 None gnomAD-2.1.1 8.05E-06
13825 46 R/L 115 rs727504774 0.1841 None gnomAD-4.0.0 6.84428E-07
13825 46 R/Q 115 rs727504774 0.1841 None gnomAD-2.1.1 2.5E-05
13825 46 R/Q 115 rs727504774 0.1841 None gnomAD-3.1.2 3.29E-05
13825 46 R/Q 115 rs727504774 0.1841 None gnomAD-4.0.0 2.60376E-05
13826 47 I/N 121 rs1252440805 0.1252 None gnomAD-4.0.0 6.84415E-07
13826 47 I/T 121 rs1252440805 0.1252 None gnomAD-2.1.1 8.05E-06
13826 47 I/V 121 None 0.1252 None gnomAD-4.0.0 1.59242E-06
13827 48 V/E 122 None 0.4382 None gnomAD-4.0.0 4.79082E-06
13827 48 V/G 122 None 0.4382 None gnomAD-4.0.0 6.84403E-07
13827 48 V/L 122 None 0.4382 None gnomAD-4.0.0 1.20032E-06
13828 49 P/S 123 rs748565404 0.4299 None gnomAD-3.1.2 6.58E-06
13828 49 P/S 123 rs748565404 0.4299 None gnomAD-4.0.0 6.58137E-06
13829 50 G/A 125 rs1114167326 0.2975 None gnomAD-2.1.1 4.03E-06
13829 50 G/A 125 rs1114167326 0.2975 None gnomAD-4.0.0 6.84402E-07
13829 50 G/D 125 rs1114167326 0.2975 None gnomAD-4.0.0 6.84402E-07
13829 50 G/R 125 None 0.2975 None gnomAD-4.0.0 6.84399E-07
13829 50 G/S 125 rs1157546543 0.2975 None gnomAD-4.0.0 2.0532E-06
13830 51 V/F 127 None 0.4724 None gnomAD-4.0.0 6.84405E-07
13830 51 V/I 127 rs149059189 0.4724 None gnomAD-2.1.1 1.57289E-04
13830 51 V/I 127 rs149059189 0.4724 None gnomAD-3.1.2 4.01295E-04
13830 51 V/I 127 rs149059189 0.4724 None 1000 genomes 1.99681E-04
13830 51 V/I 127 rs149059189 0.4724 None gnomAD-4.0.0 7.81032E-05
13831 52 I/T 130 rs2154230322 0.8077 None gnomAD-4.0.0 1.20032E-06
13831 52 I/V 130 rs1223688724 0.8077 None gnomAD-4.0.0 1.20032E-06
13832 53 G/S 131 rs2060400293 0.4380 None gnomAD-3.1.2 6.58E-06
13832 53 G/S 131 rs2060400293 0.4380 None gnomAD-4.0.0 6.57748E-06
13833 54 L/F 134 rs1288508073 0.3628 None gnomAD-3.1.2 6.58E-06
13833 54 L/F 134 rs1288508073 0.3628 None gnomAD-4.0.0 2.03017E-06
13833 54 L/M 134 None 0.3628 None gnomAD-4.0.0 1.20032E-06
13835 56 R/Q 136 rs727504539 0.1444 None gnomAD-2.1.1 4.03E-06
13835 56 R/Q 136 rs727504539 0.1444 None gnomAD-4.0.0 1.09506E-05
13835 56 R/W 136 rs886055278 0.1444 None gnomAD-4.0.0 1.36882E-05
13836 57 A/S 137 rs1326857970 0.1658 None gnomAD-2.1.1 4.03E-06
13836 57 A/S 137 rs1326857970 0.1658 None gnomAD-4.0.0 1.59232E-06
13837 58 L/V 138 None 0.1023 None gnomAD-4.0.0 6.84402E-07
13839 60 I/M 140 None 0.1051 None gnomAD-4.0.0 1.36883E-06
13839 60 I/N 140 None 0.1051 None gnomAD-4.0.0 2.40064E-06
13839 60 I/V 140 rs1433829695 0.1051 None gnomAD-2.1.1 4.03E-06
13839 60 I/V 140 rs1433829695 0.1051 None gnomAD-3.1.2 6.58E-06
13839 60 I/V 140 rs1433829695 0.1051 None gnomAD-4.0.0 3.71927E-06
13840 61 N/S 141 rs760261561 0.4370 None gnomAD-2.1.1 8.05E-06
13840 61 N/S 141 rs760261561 0.4370 None gnomAD-4.0.0 6.84398E-06
13840 61 N/Y 141 rs763460143 0.4370 None gnomAD-2.1.1 4.03E-06
13840 61 N/Y 141 rs763460143 0.4370 None gnomAD-4.0.0 1.5923E-06
13841 62 D/N 143 rs201257644 0.6247 None gnomAD-2.1.1 3.46922E-04
13841 62 D/N 143 rs201257644 0.6247 None gnomAD-3.1.2 4.07793E-04
13841 62 D/N 143 rs201257644 0.6247 None 1000 genomes 3.99361E-04
13841 62 D/N 143 rs201257644 0.6247 None gnomAD-4.0.0 6.366E-04
13841 62 D/Y 143 None 0.6247 None gnomAD-4.0.0 6.84415E-07
13842 63 A/T 144 None 0.1178 None gnomAD-4.0.0 6.8441E-07
13842 63 A/V 144 rs1231962760 0.1178 None gnomAD-2.1.1 4.03E-06
13842 63 A/V 144 rs1231962760 0.1178 None gnomAD-4.0.0 1.5924E-06
13843 64 D/E 145 rs767535967 0.2628 None gnomAD-2.1.1 4.03E-06
13843 64 D/E 145 rs767535967 0.2628 None gnomAD-4.0.0 1.59236E-06
13843 64 D/G 145 rs1482431359 0.2628 None gnomAD-4.0.0 3.1847E-06
13843 64 D/H 145 None 0.2628 None gnomAD-4.0.0 4.80129E-06
13845 66 T/R 148 None 0.5629 None gnomAD-4.0.0 1.36887E-06
13847 68 A/V 151 rs1439068447 0.2338 None gnomAD-2.1.1 4.03E-06
13847 68 A/V 151 rs1439068447 0.2338 None gnomAD-3.1.2 6.58E-06
13847 68 A/V 151 rs1439068447 0.2338 None gnomAD-4.0.0 1.05396E-05
13848 69 G/E 152 None 0.1861 None gnomAD-4.0.0 1.36902E-06
13849 70 T/I 153 rs759603723 0.4000 None gnomAD-2.1.1 4.03E-06
13849 70 T/I 153 rs759603723 0.4000 None gnomAD-4.0.0 1.59286E-06
13850 71 Y/F 154 None 0.1362 None gnomAD-4.0.0 1.20032E-06
13850 71 Y/H 154 rs774281208 0.1362 None gnomAD-2.1.1 4.03E-06
13850 71 Y/H 154 rs774281208 0.1362 None gnomAD-4.0.0 1.59305E-06
13851 72 T/A 155 rs1346163990 0.1977 None gnomAD-2.1.1 3.19E-05
13851 72 T/A 155 rs1346163990 0.1977 None gnomAD-3.1.2 6.58E-06
13851 72 T/A 155 rs1346163990 0.1977 None gnomAD-4.0.0 6.57514E-06
13851 72 T/P 155 rs1346163990 0.1977 None gnomAD-2.1.1 4.03E-06
13851 72 T/R 155 rs1282841965 0.1977 None gnomAD-2.1.1 8.06E-06
13851 72 T/R 155 rs1282841965 0.1977 None gnomAD-4.0.0 3.18665E-06
13854 75 V/A 158 rs1180677279 0.1407 None gnomAD-3.1.2 6.58E-06
13854 75 V/A 158 rs1180677279 0.1407 None gnomAD-4.0.0 1.86197E-06
13854 75 V/M 158 None 0.1407 None gnomAD-4.0.0 1.3702E-06
13855 76 E/K 159 rs780563642 0.4159 None gnomAD-2.1.1 8.09E-06
13855 76 E/K 159 rs780563642 0.4159 None gnomAD-3.1.2 6.58E-06
13855 76 E/K 159 rs780563642 0.4159 None gnomAD-4.0.0 9.31086E-06
13856 77 N/K 161 rs559906667 0.7831 None gnomAD-4.0.0 2.743E-06
13856 77 N/S 161 rs369638798 0.7831 None gnomAD-2.1.1 4.05E-06
13856 77 N/S 161 rs369638798 0.7831 None gnomAD-4.0.0 1.59917E-06
13857 78 A/T 162 rs144963490 0.2309 None gnomAD-2.1.1 3.25E-05
13857 78 A/T 162 rs144963490 0.2309 None gnomAD-3.1.2 1.97E-05
13857 78 A/T 162 rs144963490 0.2309 None 1000 genomes 3.99361E-04
13857 78 A/T 162 rs144963490 0.2309 None gnomAD-4.0.0 3.60309E-05
13857 78 A/V 162 rs1308553972 0.2309 None gnomAD-2.1.1 4.05E-06
13857 78 A/V 162 rs1308553972 0.2309 None gnomAD-4.0.0 1.60055E-06
13858 79 N/S 163 rs529917511 0.9951 None gnomAD-2.1.1 4.05E-06
13858 79 N/S 163 rs529917511 0.9951 None gnomAD-3.1.2 6.57E-06
13858 79 N/S 163 rs529917511 0.9951 None 1000 genomes 1.99681E-04
13858 79 N/S 163 rs529917511 0.9951 None gnomAD-4.0.0 6.56978E-06
13859 80 N/K 164 None 0.9085 None gnomAD-4.0.0 1.20032E-06
13861 82 E/A 168 rs1553746267 0.4596 None gnomAD-4.0.0 3.20883E-06
13862 83 C/S 169 None 0.1180 None gnomAD-4.0.0 4.82402E-06
13864 85 S/P 172 None 0.1137 None gnomAD-4.0.0 1.37961E-06
13865 86 C/G 173 None 0.3454 None gnomAD-4.0.0 6.90824E-07
13865 86 C/S 173 None 0.3454 None gnomAD-4.0.0 1.63059E-06
13866 87 V/I 174 rs375474669 0.1202 None gnomAD-2.1.1 9.27E-05
13866 87 V/I 174 rs375474669 0.1202 None gnomAD-3.1.2 9.21E-05
13866 87 V/I 174 rs375474669 0.1202 None 1000 genomes 1.99681E-04
13866 87 V/I 174 rs375474669 0.1202 None gnomAD-4.0.0 7.8321E-05
13866 87 V/L 174 rs375474669 0.1202 None gnomAD-2.1.1 4.2E-06
13866 87 V/L 174 rs375474669 0.1202 None gnomAD-4.0.0 1.3852E-06
13867 88 K/E 175 rs1406730478 0.4451 None gnomAD-2.1.1 4.2E-06
13867 88 K/E 175 rs1406730478 0.4451 None gnomAD-4.0.0 2.0779E-06
13867 88 K/I 175 rs2060384934 0.4451 None gnomAD-3.1.2 6.58E-06
13867 88 K/I 175 rs2060384934 0.4451 None gnomAD-4.0.0 6.57609E-06
13868 89 V/A 177 None 0.2214 None gnomAD-4.0.0 1.20032E-06
13868 89 V/L 177 None 0.2214 None gnomAD-4.0.0 1.64207E-06