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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20864 1 K/E 1 None 0.4189 None gnomAD-4.0.0 1.59304E-06
20864 1 K/N 1 None 0.4189 None gnomAD-4.0.0 1.20032E-06
20865 2 P/T 2 rs757101265 0.1227 None gnomAD-2.1.1 2.82E-05
20865 2 P/T 2 rs757101265 0.1227 None gnomAD-4.0.0 1.84847E-05
20867 4 P/S 4 rs374611035 0.4648 None gnomAD-2.1.1 4.04E-06
20867 4 P/S 4 rs374611035 0.4648 None gnomAD-4.0.0 6.8475E-07
20867 4 P/T 4 rs374611035 0.4648 None gnomAD-2.1.1 2.15E-05
20867 4 P/T 4 rs374611035 0.4648 None gnomAD-3.1.2 3.29E-05
20867 4 P/T 4 rs374611035 0.4648 None 1000 genomes 1.99681E-04
20867 4 P/T 4 rs374611035 0.4648 None gnomAD-4.0.0 5.58123E-06
20868 5 V/G 5 None 0.1173 None gnomAD-4.0.0 2.40143E-06
20868 5 V/M 5 rs371004819 0.1173 None gnomAD-2.1.1 1.62E-05
20868 5 V/M 5 rs371004819 0.1173 None gnomAD-3.1.2 1.31E-05
20868 5 V/M 5 rs371004819 0.1173 None gnomAD-4.0.0 1.11635E-05
20870 7 N/D 7 None 0.6691 None gnomAD-4.0.0 4.80129E-06
20870 7 N/T 7 rs376338324 0.6691 None gnomAD-2.1.1 2.83E-05
20870 7 N/T 7 rs376338324 0.6691 None gnomAD-3.1.2 1.32E-05
20870 7 N/T 7 rs376338324 0.6691 None gnomAD-4.0.0 8.06423E-06
20870 7 N/Y 7 None 0.6691 None gnomAD-4.0.0 4.80129E-06
20871 8 L/M 9 rs767670018 0.2317 None gnomAD-3.1.2 1.32E-05
20871 8 L/M 9 rs767670018 0.2317 None gnomAD-4.0.0 2.48181E-06
20871 8 L/V 9 rs767670018 0.2317 None gnomAD-2.1.1 3.24E-05
20871 8 L/V 9 rs767670018 0.2317 None gnomAD-3.1.2 6.58E-06
20871 8 L/V 9 rs767670018 0.2317 None gnomAD-4.0.0 6.63884E-05
20872 9 K/E 11 None 0.5841 None gnomAD-4.0.0 6.85142E-07
20872 9 K/I 11 None 0.5841 None gnomAD-4.0.0 3.1928E-06
20872 9 K/Q 11 rs759762547 0.5841 None gnomAD-2.1.1 8.1E-06
20872 9 K/Q 11 rs759762547 0.5841 None gnomAD-3.1.2 6.58E-06
20872 9 K/Q 11 rs759762547 0.5841 None gnomAD-4.0.0 8.06644E-06
20873 10 I/F 12 None 0.2431 None gnomAD-4.0.0 1.59683E-06
20873 10 I/T 12 rs1060500438 0.2431 None gnomAD-4.0.0 1.59683E-06
20874 11 V/A 13 None 0.4038 None gnomAD-4.0.0 1.59737E-06
20874 11 V/F 13 None 0.4038 None gnomAD-4.0.0 1.20032E-06
20876 13 V/A 15 None 0.3949 None gnomAD-4.0.0 6.85561E-07
20876 13 V/G 15 None 0.3949 None gnomAD-4.0.0 6.85561E-07
20876 13 V/M 15 rs774378099 0.3949 None gnomAD-2.1.1 4.06E-06
20876 13 V/M 15 rs774378099 0.3949 None gnomAD-4.0.0 1.59848E-06
20877 14 S/C 16 rs1406472135 0.1830 None gnomAD-2.1.1 4.06E-06
20877 14 S/C 16 rs1406472135 0.1830 None gnomAD-4.0.0 4.79825E-06
20878 15 S/G 17 rs1470748172 0.2093 None gnomAD-2.1.1 4.06E-06
20878 15 S/G 17 rs1470748172 0.2093 None gnomAD-4.0.0 1.59929E-06
20878 15 S/R 17 rs1470748172 0.2093 None gnomAD-2.1.1 8.13E-06
20878 15 S/R 17 rs1470748172 0.2093 None gnomAD-4.0.0 3.19859E-06
20878 15 S/T 17 None 0.2093 None gnomAD-4.0.0 3.19909E-06
20879 16 D/N 18 None 0.3142 None gnomAD-4.0.0 6.85819E-07
20880 17 R/K 19 None 0.4296 None gnomAD-4.0.0 1.60055E-06
20880 17 R/S 19 rs1181982003 0.4296 None gnomAD-2.1.1 4.07E-06
20880 17 R/S 19 rs1181982003 0.4296 None gnomAD-4.0.0 2.05779E-06
20882 19 T/A 21 rs538308579 0.2311 None gnomAD-2.1.1 2.17E-05
20882 19 T/A 21 rs538308579 0.2311 None gnomAD-3.1.2 1.32E-05
20882 19 T/A 21 rs538308579 0.2311 None 1000 genomes 1.99681E-04
20882 19 T/A 21 rs538308579 0.2311 None gnomAD-4.0.0 8.6963E-06
20883 20 V/I 22 None 0.1094 None gnomAD-4.0.0 6.86056E-07
20883 20 V/L 22 None 0.1094 None gnomAD-4.0.0 6.86056E-07
20884 21 C/F 23 rs773806020 0.2374 None gnomAD-2.1.1 1.45E-05
20884 21 C/F 23 rs773806020 0.2374 None gnomAD-3.1.2 1.97E-05
20884 21 C/F 23 rs773806020 0.2374 None gnomAD-4.0.0 1.15934E-05
20884 21 C/R 23 rs2154183548 0.2374 None gnomAD-4.0.0 2.74432E-06
20886 23 D/E 25 rs1381546881 0.3669 None gnomAD-2.1.1 3.19E-05
20886 23 D/E 25 rs1381546881 0.3669 None gnomAD-3.1.2 6.58E-06
20886 23 D/E 25 rs1381546881 0.3669 None gnomAD-4.0.0 6.57678E-06
20886 23 D/G 25 None 0.3669 None gnomAD-4.0.0 1.20032E-06
20886 23 D/N 25 rs1445324473 0.3669 None gnomAD-2.1.1 8.16E-06
20886 23 D/N 25 rs1445324473 0.3669 None gnomAD-4.0.0 4.80654E-06
20887 24 P/L 26 None 0.4377 None gnomAD-4.0.0 1.6025E-06
20891 28 D/G 30 rs770046598 0.2781 None gnomAD-2.1.1 4.08E-06
20891 28 D/G 30 rs770046598 0.2781 None gnomAD-4.0.0 2.05875E-06
20891 28 D/N 30 rs2049675533 0.2781 None gnomAD-4.0.0 3.20478E-06
20892 29 G/S 31 rs777144646 0.1362 None gnomAD-2.1.1 8.16E-06
20892 29 G/S 31 rs777144646 0.1362 None gnomAD-4.0.0 6.8622E-07
20893 30 G/A 32 rs952158828 0.4292 None gnomAD-4.0.0 3.43141E-06
20893 30 G/R 32 None 0.4292 None gnomAD-4.0.0 6.86214E-07
20893 30 G/S 32 rs1576064478 0.4292 None gnomAD-4.0.0 6.86214E-07
20893 30 G/V 32 rs952158828 0.4292 None gnomAD-2.1.1 4.09E-06
20893 30 G/V 32 rs952158828 0.4292 None gnomAD-4.0.0 2.05885E-06
20894 31 C/F 33 rs370080086 0.2310 None gnomAD-2.1.1 9.06E-05
20894 31 C/F 33 rs370080086 0.2310 None gnomAD-3.1.2 8.55E-05
20894 31 C/F 33 rs370080086 0.2310 None gnomAD-4.0.0 1.45403E-04
20894 31 C/S 33 rs370080086 0.2310 None gnomAD-2.1.1 4.09E-06
20894 31 C/S 33 rs370080086 0.2310 None gnomAD-4.0.0 6.86282E-07
20894 31 C/Y 33 None 0.2310 None gnomAD-3.1.2 6.58E-06
20894 31 C/Y 33 None 0.2310 None gnomAD-4.0.0 6.57583E-06
20896 33 I/M 35 None 0.2573 None gnomAD-4.0.0 1.60181E-06
20898 35 N/K 37 rs778236151 0.2069 None gnomAD-2.1.1 4.08E-06
20898 35 N/K 37 rs778236151 0.2069 None gnomAD-4.0.0 1.60076E-06
20899 36 Y/C 38 rs564111693 0.1505 None gnomAD-2.1.1 8.16E-06
20899 36 Y/C 38 rs564111693 0.1505 None gnomAD-4.0.0 8.00228E-06
20900 37 I/F 39 rs1320866364 0.1976 None gnomAD-2.1.1 8.16E-06
20900 37 I/F 39 rs1320866364 0.1976 None gnomAD-4.0.0 3.19957E-06
20900 37 I/T 39 rs770522021 0.1976 None gnomAD-2.1.1 1.22E-05
20900 37 I/T 39 rs770522021 0.1976 None gnomAD-3.1.2 6.58E-06
20900 37 I/T 39 rs770522021 0.1976 None gnomAD-4.0.0 6.57756E-06
20901 38 L/I 40 None 0.1028 None gnomAD-4.0.0 1.37149E-06
20901 38 L/P 40 None 0.1028 None gnomAD-4.0.0 1.59902E-06
20903 40 K/E 42 None 0.2028 None gnomAD-4.0.0 1.5984E-06
20904 41 C/S 43 rs866862450 0.0575 None gnomAD-2.1.1 4.07E-06
20904 41 C/S 43 rs866862450 0.0575 None gnomAD-4.0.0 1.59817E-06
20906 43 T/I 50 rs1386139408 0.2017 None gnomAD-2.1.1 4.07E-06
20906 43 T/I 50 rs1386139408 0.2017 None gnomAD-4.0.0 6.8533E-07
20906 43 T/K 50 None 0.2017 None gnomAD-4.0.0 2.74132E-06
20906 43 T/R 50 rs1386139408 0.2017 None gnomAD-2.1.1 4.07E-06
20906 43 T/R 50 rs1386139408 0.2017 None gnomAD-4.0.0 6.8533E-07
20908 45 R/P 60 rs377203669 0.5901 None gnomAD-2.1.1 3.19E-05
20908 45 R/P 60 rs377203669 0.5901 None gnomAD-3.1.2 6.58E-06
20908 45 R/P 60 rs377203669 0.5901 None gnomAD-4.0.0 6.57834E-06
20908 45 R/Q 60 rs377203669 0.5901 None gnomAD-2.1.1 8.14E-05
20908 45 R/Q 60 rs377203669 0.5901 None gnomAD-3.1.2 5.92E-05
20908 45 R/Q 60 rs377203669 0.5901 None 1000 genomes 1.99681E-04
20908 45 R/Q 60 rs377203669 0.5901 None gnomAD-4.0.0 3.66159E-05
20909 46 M/T 63 rs1474501322 0.4846 None gnomAD-2.1.1 8.13E-06
20909 46 M/T 63 rs1474501322 0.4846 None gnomAD-4.0.0 5.48116E-06
20911 48 W/R 65 None 0.2723 None gnomAD-4.0.0 1.20032E-06
20911 48 W/S 65 rs1243863753 0.2723 None gnomAD-2.1.1 4.06E-06
20911 48 W/S 65 rs1243863753 0.2723 None gnomAD-3.1.2 6.58E-06
20911 48 W/S 65 rs1243863753 0.2723 None gnomAD-4.0.0 2.56895E-06
20912 49 S/F 66 rs2049657792 0.3257 None gnomAD-4.0.0 2.74014E-06
20914 51 Y/S 68 rs1456081196 0.2581 None gnomAD-2.1.1 3.19E-05
20914 51 Y/S 68 rs1456081196 0.2581 None gnomAD-3.1.2 6.58E-06
20914 51 Y/S 68 rs1456081196 0.2581 None gnomAD-4.0.0 2.56736E-06
20916 53 A/D 70 None 0.3196 None gnomAD-4.0.0 1.59497E-06
20916 53 A/S 70 None 0.3196 None gnomAD-4.0.0 1.595E-06
20917 54 T/A 75 rs1052813873 0.7138 None gnomAD-3.1.2 6.58E-06
20917 54 T/A 75 rs1052813873 0.7138 None gnomAD-4.0.0 2.03009E-06
20917 54 T/S 75 None 0.7138 None gnomAD-4.0.0 1.36973E-06
20918 55 V/A 77 rs1290792058 0.1395 None gnomAD-2.1.1 4.05E-06
20918 55 V/A 77 rs1290792058 0.1395 None gnomAD-4.0.0 6.84795E-07
20918 55 V/I 77 rs1488554546 0.1395 None gnomAD-4.0.0 6.84827E-07
20918 55 V/L 77 rs1488554546 0.1395 None gnomAD-2.1.1 4.05E-06
20918 55 V/L 77 rs1488554546 0.1395 None gnomAD-4.0.0 3.42414E-06
20919 56 L/S 83 rs756059826 0.8597 None gnomAD-2.1.1 8.1E-06
20919 56 L/S 83 rs756059826 0.8597 None gnomAD-4.0.0 1.59424E-06
20919 56 L/W 83 None 0.8597 None gnomAD-4.0.0 1.59424E-06
20920 57 T/I 88 rs752337479 0.5889 None gnomAD-2.1.1 3.19E-05
20920 57 T/I 88 rs752337479 0.5889 None gnomAD-3.1.2 6.58E-06
20920 57 T/I 88 rs752337479 0.5889 None gnomAD-4.0.0 3.10116E-06
20920 57 T/K 88 None 0.5889 None gnomAD-4.0.0 6.84797E-07
20921 58 P/R 89 rs2154183465 0.3364 None gnomAD-4.0.0 3.18856E-06
20921 58 P/S 89 rs935268567 0.3364 None gnomAD-3.1.2 1.32E-05
20921 58 P/S 89 rs935268567 0.3364 None gnomAD-4.0.0 1.86062E-06
20921 58 P/T 89 None 0.3364 None gnomAD-2.1.1 3.19E-05
20921 58 P/T 89 None 0.3364 None gnomAD-3.1.2 1.32E-05
20921 58 P/T 89 None 0.3364 None gnomAD-4.0.0 5.58187E-06
20923 60 T/A 91 None 0.3056 None gnomAD-4.0.0 1.59402E-06
20923 60 T/I 91 rs781000091 0.3056 None gnomAD-2.1.1 4.05E-06
20924 61 T/I 92 rs1213561769 0.3783 None gnomAD-2.1.1 4.05E-06
20924 61 T/I 92 rs1213561769 0.3783 None gnomAD-4.0.0 2.73884E-06
20924 61 T/R 92 rs1213561769 0.3783 None gnomAD-2.1.1 8.1E-06
20924 61 T/R 92 rs1213561769 0.3783 None gnomAD-4.0.0 4.79298E-06
20925 62 V/E 93 rs755147938 0.0799 None gnomAD-2.1.1 4.05E-06
20925 62 V/E 93 rs755147938 0.0799 None gnomAD-4.0.0 1.59368E-06
20926 63 T/R 94 None 0.3162 None gnomAD-4.0.0 1.36932E-06
20927 64 R/C 96 rs547604540 0.7895 None gnomAD-2.1.1 1.44E-05
20927 64 R/C 96 rs547604540 0.7895 None gnomAD-3.1.2 6.58E-06
20927 64 R/C 96 rs547604540 0.7895 None gnomAD-4.0.0 1.79839E-05
20927 64 R/H 96 rs397517652 0.7895 None gnomAD-2.1.1 1.08E-05
20927 64 R/H 96 rs397517652 0.7895 None gnomAD-3.1.2 3.95E-05
20927 64 R/H 96 rs397517652 0.7895 None 1000 genomes 1.99681E-04
20927 64 R/H 96 rs397517652 0.7895 None gnomAD-4.0.0 1.61224E-05
20928 65 L/F 97 rs763157400 0.1303 None gnomAD-2.1.1 8.09E-06
20928 65 L/F 97 rs763157400 0.1303 None gnomAD-4.0.0 3.18708E-06
20928 65 L/P 97 None 0.1303 None gnomAD-4.0.0 1.36925E-06
20929 66 I/T 98 rs794729471 0.5230 None gnomAD-2.1.1 4.04E-06
20929 66 I/T 98 rs794729471 0.5230 None gnomAD-3.1.2 1.32E-05
20929 66 I/T 98 rs794729471 0.5230 None gnomAD-4.0.0 3.72063E-06
20932 69 N/Y 102 None 0.2171 None gnomAD-4.0.0 1.20032E-06
20934 71 Y/C 104 rs568688685 0.1000 None gnomAD-2.1.1 7.17E-06
20934 71 Y/C 104 rs568688685 0.1000 None gnomAD-3.1.2 1.97E-05
20934 71 Y/C 104 rs568688685 0.1000 None 1000 genomes 1.99681E-04
20934 71 Y/C 104 rs568688685 0.1000 None gnomAD-4.0.0 4.05968E-06
20935 72 I/V 105 rs1249633842 0.1771 None gnomAD-2.1.1 6.38E-05
20935 72 I/V 105 rs1249633842 0.1771 None gnomAD-3.1.2 1.32E-05
20935 72 I/V 105 rs1249633842 0.1771 None gnomAD-4.0.0 3.84737E-06
20937 74 R/G 107 None 0.0880 None gnomAD-4.0.0 1.59308E-06
20937 74 R/K 107 None 0.0880 None gnomAD-4.0.0 1.20032E-06
20938 75 V/D 108 None 0.0835 None gnomAD-4.0.0 1.59295E-06
20939 76 R/C 109 rs369694001 0.2014 None gnomAD-2.1.1 4.04E-06
20939 76 R/C 109 rs369694001 0.2014 None gnomAD-4.0.0 8.89892E-06
20939 76 R/G 109 rs369694001 0.2014 None gnomAD-3.1.2 6.58E-06
20939 76 R/G 109 rs369694001 0.2014 None gnomAD-4.0.0 1.24009E-06
20939 76 R/H 109 rs777095470 0.2014 None gnomAD-2.1.1 2.51E-05
20939 76 R/H 109 rs777095470 0.2014 None gnomAD-3.1.2 3.29E-05
20939 76 R/H 109 rs777095470 0.2014 None gnomAD-4.0.0 2.41813E-05
20940 77 A/T 110 None 0.1170 None gnomAD-4.0.0 1.59298E-06
20941 78 E/K 111 rs1480131306 0.1990 None gnomAD-2.1.1 4.03E-06
20941 78 E/K 111 rs1480131306 0.1990 None gnomAD-4.0.0 1.59284E-06
20942 79 N/H 112 None 0.0876 None gnomAD-4.0.0 1.36897E-06
20942 79 N/K 112 rs1197168679 0.0876 None gnomAD-2.1.1 8.07E-06
20942 79 N/K 112 rs1197168679 0.0876 None gnomAD-4.0.0 1.59275E-06
20942 79 N/S 112 rs769163040 0.0876 None gnomAD-2.1.1 4.03E-05
20942 79 N/S 112 rs769163040 0.0876 None gnomAD-3.1.2 1.32E-05
20942 79 N/S 112 rs769163040 0.0876 None gnomAD-4.0.0 1.7359E-05
20943 80 K/T 113 None 0.8446 None gnomAD-4.0.0 2.40065E-06
20944 81 I/M 114 None 0.2095 None gnomAD-4.0.0 4.79126E-06
20944 81 I/T 114 None 0.2095 None gnomAD-4.0.0 1.59261E-06
20945 82 G/D 115 rs2049635543 0.1473 None gnomAD-4.0.0 3.18538E-06
20948 85 P/L 119 rs1203416439 0.3861 None gnomAD-2.1.1 4.03E-06
20948 85 P/L 119 rs1203416439 0.3861 None gnomAD-4.0.0 1.77949E-05
20948 85 P/S 119 None 0.3861 None gnomAD-4.0.0 6.84434E-07
20950 87 T/A 121 rs748774963 0.2288 None gnomAD-2.1.1 8.06E-06
20950 87 T/A 121 rs748774963 0.2288 None gnomAD-3.1.2 6.58E-06
20950 87 T/A 121 rs748774963 0.2288 None gnomAD-4.0.0 1.28176E-05
20951 88 E/Q 122 None 0.3640 None gnomAD-4.0.0 4.79083E-06
20952 89 S/G 123 rs769683530 0.1720 None gnomAD-2.1.1 4.03E-06
20952 89 S/G 123 rs769683530 0.1720 None gnomAD-4.0.0 1.20032E-06
20952 89 S/R 123 rs748109390 0.1720 None gnomAD-2.1.1 4.03E-06
20952 89 S/R 123 rs748109390 0.1720 None gnomAD-3.1.2 6.58E-06
20952 89 S/R 123 rs748109390 0.1720 None gnomAD-4.0.0 6.58033E-06
20953 90 K/N 124 rs765002114 0.9399 None gnomAD-2.1.1 2.5E-05
20953 90 K/N 124 rs765002114 0.9399 None gnomAD-3.1.2 3.95E-05
20953 90 K/N 124 rs765002114 0.9399 None gnomAD-4.0.0 1.79765E-05
20954 91 P/Q 126 None 0.4260 None gnomAD-4.0.0 6.84366E-07
20956 93 I/T 128 rs758926314 0.4608 None gnomAD-2.1.1 4.03E-06
20956 93 I/T 128 rs758926314 0.4608 None gnomAD-3.1.2 1.32E-05
20956 93 I/T 128 rs758926314 0.4608 None gnomAD-4.0.0 2.54147E-05
20958 95 K/E 131 None 0.5664 None gnomAD-4.0.0 1.20032E-06
20958 95 K/R 131 rs2049627530 0.5664 None gnomAD-3.1.2 6.58E-06
20958 95 K/R 131 rs2049627530 0.5664 None gnomAD-4.0.0 6.57635E-06