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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20864 1 K/E 1 None 0.5482 None gnomAD-4.0.0 1.59304E-06
20864 1 K/N 1 None 0.5482 None gnomAD-4.0.0 1.20032E-06
20865 2 P/T 2 rs757101265 0.1452 None gnomAD-2.1.1 2.82E-05
20865 2 P/T 2 rs757101265 0.1452 None gnomAD-4.0.0 1.84847E-05
20867 4 P/S 4 rs374611035 0.4799 None gnomAD-2.1.1 4.04E-06
20867 4 P/S 4 rs374611035 0.4799 None gnomAD-4.0.0 6.8475E-07
20867 4 P/T 4 rs374611035 0.4799 None gnomAD-2.1.1 2.15E-05
20867 4 P/T 4 rs374611035 0.4799 None gnomAD-3.1.2 3.29E-05
20867 4 P/T 4 rs374611035 0.4799 None 1000 genomes 1.99681E-04
20867 4 P/T 4 rs374611035 0.4799 None gnomAD-4.0.0 5.58123E-06
20868 5 V/G 5 None 0.1278 None gnomAD-4.0.0 2.40143E-06
20868 5 V/M 5 rs371004819 0.1278 None gnomAD-2.1.1 1.62E-05
20868 5 V/M 5 rs371004819 0.1278 None gnomAD-3.1.2 1.31E-05
20868 5 V/M 5 rs371004819 0.1278 None gnomAD-4.0.0 1.11635E-05
20870 7 N/D 7 None 0.5933 None gnomAD-4.0.0 4.80129E-06
20870 7 N/T 7 rs376338324 0.5933 None gnomAD-2.1.1 2.83E-05
20870 7 N/T 7 rs376338324 0.5933 None gnomAD-3.1.2 1.32E-05
20870 7 N/T 7 rs376338324 0.5933 None gnomAD-4.0.0 8.06423E-06
20870 7 N/Y 7 None 0.5933 None gnomAD-4.0.0 4.80129E-06
20871 8 L/M 9 rs767670018 0.2139 None gnomAD-3.1.2 1.32E-05
20871 8 L/M 9 rs767670018 0.2139 None gnomAD-4.0.0 2.48181E-06
20871 8 L/V 9 rs767670018 0.2139 None gnomAD-2.1.1 3.24E-05
20871 8 L/V 9 rs767670018 0.2139 None gnomAD-3.1.2 6.58E-06
20871 8 L/V 9 rs767670018 0.2139 None gnomAD-4.0.0 6.63884E-05
20872 9 K/E 11 None 0.5347 None gnomAD-4.0.0 6.85142E-07
20872 9 K/I 11 None 0.5347 None gnomAD-4.0.0 3.1928E-06
20872 9 K/Q 11 rs759762547 0.5347 None gnomAD-2.1.1 8.1E-06
20872 9 K/Q 11 rs759762547 0.5347 None gnomAD-3.1.2 6.58E-06
20872 9 K/Q 11 rs759762547 0.5347 None gnomAD-4.0.0 8.06644E-06
20873 10 I/F 12 None 0.2442 None gnomAD-4.0.0 1.59683E-06
20873 10 I/T 12 rs1060500438 0.2442 None gnomAD-4.0.0 1.59683E-06
20874 11 V/A 13 None 0.3854 None gnomAD-4.0.0 1.59737E-06
20874 11 V/F 13 None 0.3854 None gnomAD-4.0.0 1.20032E-06
20876 13 V/A 15 None 0.3325 None gnomAD-4.0.0 6.85561E-07
20876 13 V/G 15 None 0.3325 None gnomAD-4.0.0 6.85561E-07
20876 13 V/M 15 rs774378099 0.3325 None gnomAD-2.1.1 4.06E-06
20876 13 V/M 15 rs774378099 0.3325 None gnomAD-4.0.0 1.59848E-06
20877 14 S/C 16 rs1406472135 0.1467 None gnomAD-2.1.1 4.06E-06
20877 14 S/C 16 rs1406472135 0.1467 None gnomAD-4.0.0 4.79825E-06
20878 15 S/G 17 rs1470748172 0.1947 None gnomAD-2.1.1 4.06E-06
20878 15 S/G 17 rs1470748172 0.1947 None gnomAD-4.0.0 1.59929E-06
20878 15 S/R 17 rs1470748172 0.1947 None gnomAD-2.1.1 8.13E-06
20878 15 S/R 17 rs1470748172 0.1947 None gnomAD-4.0.0 3.19859E-06
20878 15 S/T 17 None 0.1947 None gnomAD-4.0.0 3.19909E-06
20879 16 D/N 18 None 0.3153 None gnomAD-4.0.0 6.85819E-07
20880 17 R/K 19 None 0.3124 None gnomAD-4.0.0 1.60055E-06
20880 17 R/S 19 rs1181982003 0.3124 None gnomAD-2.1.1 4.07E-06
20880 17 R/S 19 rs1181982003 0.3124 None gnomAD-4.0.0 2.05779E-06
20882 19 T/A 21 rs538308579 0.2088 None gnomAD-2.1.1 2.17E-05
20882 19 T/A 21 rs538308579 0.2088 None gnomAD-3.1.2 1.32E-05
20882 19 T/A 21 rs538308579 0.2088 None 1000 genomes 1.99681E-04
20882 19 T/A 21 rs538308579 0.2088 None gnomAD-4.0.0 8.6963E-06
20883 20 V/I 22 None 0.1029 None gnomAD-4.0.0 6.86056E-07
20883 20 V/L 22 None 0.1029 None gnomAD-4.0.0 6.86056E-07
20884 21 C/F 23 rs773806020 0.2161 None gnomAD-2.1.1 1.45E-05
20884 21 C/F 23 rs773806020 0.2161 None gnomAD-3.1.2 1.97E-05
20884 21 C/F 23 rs773806020 0.2161 None gnomAD-4.0.0 1.15934E-05
20884 21 C/R 23 rs2154183548 0.2161 None gnomAD-4.0.0 2.74432E-06
20886 23 D/E 25 rs1381546881 0.4082 None gnomAD-2.1.1 3.19E-05
20886 23 D/E 25 rs1381546881 0.4082 None gnomAD-3.1.2 6.58E-06
20886 23 D/E 25 rs1381546881 0.4082 None gnomAD-4.0.0 6.57678E-06
20886 23 D/G 25 None 0.4082 None gnomAD-4.0.0 1.20032E-06
20886 23 D/N 25 rs1445324473 0.4082 None gnomAD-2.1.1 8.16E-06
20886 23 D/N 25 rs1445324473 0.4082 None gnomAD-4.0.0 4.80654E-06
20887 24 P/L 26 None 0.4137 None gnomAD-4.0.0 1.6025E-06
20891 28 D/G 30 rs770046598 0.2748 None gnomAD-2.1.1 4.08E-06
20891 28 D/G 30 rs770046598 0.2748 None gnomAD-4.0.0 2.05875E-06
20891 28 D/N 30 rs2049675533 0.2748 None gnomAD-4.0.0 3.20478E-06
20892 29 G/S 31 rs777144646 0.3395 None gnomAD-2.1.1 8.16E-06
20892 29 G/S 31 rs777144646 0.3395 None gnomAD-4.0.0 6.8622E-07
20893 30 G/A 32 rs952158828 0.5955 None gnomAD-4.0.0 3.43141E-06
20893 30 G/R 32 None 0.5955 None gnomAD-4.0.0 6.86214E-07
20893 30 G/S 32 rs1576064478 0.5955 None gnomAD-4.0.0 6.86214E-07
20893 30 G/V 32 rs952158828 0.5955 None gnomAD-2.1.1 4.09E-06
20893 30 G/V 32 rs952158828 0.5955 None gnomAD-4.0.0 2.05885E-06
20894 31 C/F 33 rs370080086 0.2436 None gnomAD-2.1.1 9.06E-05
20894 31 C/F 33 rs370080086 0.2436 None gnomAD-3.1.2 8.55E-05
20894 31 C/F 33 rs370080086 0.2436 None gnomAD-4.0.0 1.45403E-04
20894 31 C/S 33 rs370080086 0.2436 None gnomAD-2.1.1 4.09E-06
20894 31 C/S 33 rs370080086 0.2436 None gnomAD-4.0.0 6.86282E-07
20894 31 C/Y 33 None 0.2436 None gnomAD-3.1.2 6.58E-06
20894 31 C/Y 33 None 0.2436 None gnomAD-4.0.0 6.57583E-06
20896 33 I/M 35 None 0.2128 None gnomAD-4.0.0 1.60181E-06
20898 35 N/K 37 rs778236151 0.2019 None gnomAD-2.1.1 4.08E-06
20898 35 N/K 37 rs778236151 0.2019 None gnomAD-4.0.0 1.60076E-06
20899 36 Y/C 38 rs564111693 0.1113 None gnomAD-2.1.1 8.16E-06
20899 36 Y/C 38 rs564111693 0.1113 None gnomAD-4.0.0 8.00228E-06
20900 37 I/F 39 rs1320866364 0.2432 None gnomAD-2.1.1 8.16E-06
20900 37 I/F 39 rs1320866364 0.2432 None gnomAD-4.0.0 3.19957E-06
20900 37 I/T 39 rs770522021 0.2432 None gnomAD-2.1.1 1.22E-05
20900 37 I/T 39 rs770522021 0.2432 None gnomAD-3.1.2 6.58E-06
20900 37 I/T 39 rs770522021 0.2432 None gnomAD-4.0.0 6.57756E-06
20901 38 L/I 40 None 0.1047 None gnomAD-4.0.0 1.37149E-06
20901 38 L/P 40 None 0.1047 None gnomAD-4.0.0 1.59902E-06
20903 40 K/E 42 None 0.2318 None gnomAD-4.0.0 1.5984E-06
20904 41 C/S 43 rs866862450 0.0742 None gnomAD-2.1.1 4.07E-06
20904 41 C/S 43 rs866862450 0.0742 None gnomAD-4.0.0 1.59817E-06
20906 43 T/I 50 rs1386139408 0.2272 None gnomAD-2.1.1 4.07E-06
20906 43 T/I 50 rs1386139408 0.2272 None gnomAD-4.0.0 6.8533E-07
20906 43 T/K 50 None 0.2272 None gnomAD-4.0.0 2.74132E-06
20906 43 T/R 50 rs1386139408 0.2272 None gnomAD-2.1.1 4.07E-06
20906 43 T/R 50 rs1386139408 0.2272 None gnomAD-4.0.0 6.8533E-07
20908 45 R/P 60 rs377203669 0.6396 None gnomAD-2.1.1 3.19E-05
20908 45 R/P 60 rs377203669 0.6396 None gnomAD-3.1.2 6.58E-06
20908 45 R/P 60 rs377203669 0.6396 None gnomAD-4.0.0 6.57834E-06
20908 45 R/Q 60 rs377203669 0.6396 None gnomAD-2.1.1 8.14E-05
20908 45 R/Q 60 rs377203669 0.6396 None gnomAD-3.1.2 5.92E-05
20908 45 R/Q 60 rs377203669 0.6396 None 1000 genomes 1.99681E-04
20908 45 R/Q 60 rs377203669 0.6396 None gnomAD-4.0.0 3.66159E-05
20909 46 M/T 63 rs1474501322 0.5429 None gnomAD-2.1.1 8.13E-06
20909 46 M/T 63 rs1474501322 0.5429 None gnomAD-4.0.0 5.48116E-06
20911 48 W/R 65 None 0.3202 None gnomAD-4.0.0 1.20032E-06
20911 48 W/S 65 rs1243863753 0.3202 None gnomAD-2.1.1 4.06E-06
20911 48 W/S 65 rs1243863753 0.3202 None gnomAD-3.1.2 6.58E-06
20911 48 W/S 65 rs1243863753 0.3202 None gnomAD-4.0.0 2.56895E-06
20912 49 S/F 66 rs2049657792 0.3382 None gnomAD-4.0.0 2.74014E-06
20914 51 Y/S 68 rs1456081196 0.2696 None gnomAD-2.1.1 3.19E-05
20914 51 Y/S 68 rs1456081196 0.2696 None gnomAD-3.1.2 6.58E-06
20914 51 Y/S 68 rs1456081196 0.2696 None gnomAD-4.0.0 2.56736E-06
20916 53 A/D 70 None 0.3569 None gnomAD-4.0.0 1.59497E-06
20916 53 A/S 70 None 0.3569 None gnomAD-4.0.0 1.595E-06
20917 54 T/A 75 rs1052813873 0.6949 None gnomAD-3.1.2 6.58E-06
20917 54 T/A 75 rs1052813873 0.6949 None gnomAD-4.0.0 2.03009E-06
20917 54 T/S 75 None 0.6949 None gnomAD-4.0.0 1.36973E-06
20918 55 V/A 77 rs1290792058 0.1336 None gnomAD-2.1.1 4.05E-06
20918 55 V/A 77 rs1290792058 0.1336 None gnomAD-4.0.0 6.84795E-07
20918 55 V/I 77 rs1488554546 0.1336 None gnomAD-4.0.0 6.84827E-07
20918 55 V/L 77 rs1488554546 0.1336 None gnomAD-2.1.1 4.05E-06
20918 55 V/L 77 rs1488554546 0.1336 None gnomAD-4.0.0 3.42414E-06
20919 56 L/S 83 rs756059826 0.8015 None gnomAD-2.1.1 8.1E-06
20919 56 L/S 83 rs756059826 0.8015 None gnomAD-4.0.0 1.59424E-06
20919 56 L/W 83 None 0.8015 None gnomAD-4.0.0 1.59424E-06
20920 57 T/I 88 rs752337479 0.5630 None gnomAD-2.1.1 3.19E-05
20920 57 T/I 88 rs752337479 0.5630 None gnomAD-3.1.2 6.58E-06
20920 57 T/I 88 rs752337479 0.5630 None gnomAD-4.0.0 3.10116E-06
20920 57 T/K 88 None 0.5630 None gnomAD-4.0.0 6.84797E-07
20921 58 P/R 89 rs2154183465 0.2826 None gnomAD-4.0.0 3.18856E-06
20921 58 P/S 89 rs935268567 0.2826 None gnomAD-3.1.2 1.32E-05
20921 58 P/S 89 rs935268567 0.2826 None gnomAD-4.0.0 1.86062E-06
20921 58 P/T 89 None 0.2826 None gnomAD-2.1.1 3.19E-05
20921 58 P/T 89 None 0.2826 None gnomAD-3.1.2 1.32E-05
20921 58 P/T 89 None 0.2826 None gnomAD-4.0.0 5.58187E-06
20923 60 T/A 91 None 0.2851 None gnomAD-4.0.0 1.59402E-06
20923 60 T/I 91 rs781000091 0.2851 None gnomAD-2.1.1 4.05E-06
20924 61 T/I 92 rs1213561769 0.3545 None gnomAD-2.1.1 4.05E-06
20924 61 T/I 92 rs1213561769 0.3545 None gnomAD-4.0.0 2.73884E-06
20924 61 T/R 92 rs1213561769 0.3545 None gnomAD-2.1.1 8.1E-06
20924 61 T/R 92 rs1213561769 0.3545 None gnomAD-4.0.0 4.79298E-06
20925 62 V/E 93 rs755147938 0.0845 None gnomAD-2.1.1 4.05E-06
20925 62 V/E 93 rs755147938 0.0845 None gnomAD-4.0.0 1.59368E-06
20926 63 T/R 94 None 0.3276 None gnomAD-4.0.0 1.36932E-06
20927 64 R/C 96 rs547604540 0.7803 None gnomAD-2.1.1 1.44E-05
20927 64 R/C 96 rs547604540 0.7803 None gnomAD-3.1.2 6.58E-06
20927 64 R/C 96 rs547604540 0.7803 None gnomAD-4.0.0 1.79839E-05
20927 64 R/H 96 rs397517652 0.7803 None gnomAD-2.1.1 1.08E-05
20927 64 R/H 96 rs397517652 0.7803 None gnomAD-3.1.2 3.95E-05
20927 64 R/H 96 rs397517652 0.7803 None 1000 genomes 1.99681E-04
20927 64 R/H 96 rs397517652 0.7803 None gnomAD-4.0.0 1.61224E-05
20928 65 L/F 97 rs763157400 0.1327 None gnomAD-2.1.1 8.09E-06
20928 65 L/F 97 rs763157400 0.1327 None gnomAD-4.0.0 3.18708E-06
20928 65 L/P 97 None 0.1327 None gnomAD-4.0.0 1.36925E-06
20929 66 I/T 98 rs794729471 0.5263 None gnomAD-2.1.1 4.04E-06
20929 66 I/T 98 rs794729471 0.5263 None gnomAD-3.1.2 1.32E-05
20929 66 I/T 98 rs794729471 0.5263 None gnomAD-4.0.0 3.72063E-06
20932 69 N/Y 102 None 0.2509 None gnomAD-4.0.0 1.20032E-06
20934 71 Y/C 104 rs568688685 0.1124 None gnomAD-2.1.1 7.17E-06
20934 71 Y/C 104 rs568688685 0.1124 None gnomAD-3.1.2 1.97E-05
20934 71 Y/C 104 rs568688685 0.1124 None 1000 genomes 1.99681E-04
20934 71 Y/C 104 rs568688685 0.1124 None gnomAD-4.0.0 4.05968E-06
20935 72 I/V 105 rs1249633842 0.2048 None gnomAD-2.1.1 6.38E-05
20935 72 I/V 105 rs1249633842 0.2048 None gnomAD-3.1.2 1.32E-05
20935 72 I/V 105 rs1249633842 0.2048 None gnomAD-4.0.0 3.84737E-06
20937 74 R/G 107 None 0.1203 None gnomAD-4.0.0 1.59308E-06
20937 74 R/K 107 None 0.1203 None gnomAD-4.0.0 1.20032E-06
20938 75 V/D 108 None 0.0872 None gnomAD-4.0.0 1.59295E-06
20939 76 R/C 109 rs369694001 0.1871 None gnomAD-2.1.1 4.04E-06
20939 76 R/C 109 rs369694001 0.1871 None gnomAD-4.0.0 8.89892E-06
20939 76 R/G 109 rs369694001 0.1871 None gnomAD-3.1.2 6.58E-06
20939 76 R/G 109 rs369694001 0.1871 None gnomAD-4.0.0 1.24009E-06
20939 76 R/H 109 rs777095470 0.1871 None gnomAD-2.1.1 2.51E-05
20939 76 R/H 109 rs777095470 0.1871 None gnomAD-3.1.2 3.29E-05
20939 76 R/H 109 rs777095470 0.1871 None gnomAD-4.0.0 2.41813E-05
20940 77 A/T 110 None 0.1171 None gnomAD-4.0.0 1.59298E-06
20941 78 E/K 111 rs1480131306 0.2276 None gnomAD-2.1.1 4.03E-06
20941 78 E/K 111 rs1480131306 0.2276 None gnomAD-4.0.0 1.59284E-06
20942 79 N/H 112 None 0.0983 None gnomAD-4.0.0 1.36897E-06
20942 79 N/K 112 rs1197168679 0.0983 None gnomAD-2.1.1 8.07E-06
20942 79 N/K 112 rs1197168679 0.0983 None gnomAD-4.0.0 1.59275E-06
20942 79 N/S 112 rs769163040 0.0983 None gnomAD-2.1.1 4.03E-05
20942 79 N/S 112 rs769163040 0.0983 None gnomAD-3.1.2 1.32E-05
20942 79 N/S 112 rs769163040 0.0983 None gnomAD-4.0.0 1.7359E-05
20943 80 K/T 113 None 0.7588 None gnomAD-4.0.0 2.40065E-06
20944 81 I/M 114 None 0.6359 None gnomAD-4.0.0 4.79126E-06
20944 81 I/T 114 None 0.6359 None gnomAD-4.0.0 1.59261E-06
20945 82 G/D 115 rs2049635543 0.1539 None gnomAD-4.0.0 3.18538E-06
20948 85 P/L 119 rs1203416439 0.4133 None gnomAD-2.1.1 4.03E-06
20948 85 P/L 119 rs1203416439 0.4133 None gnomAD-4.0.0 1.77949E-05
20948 85 P/S 119 None 0.4133 None gnomAD-4.0.0 6.84434E-07
20950 87 T/A 121 rs748774963 0.2508 None gnomAD-2.1.1 8.06E-06
20950 87 T/A 121 rs748774963 0.2508 None gnomAD-3.1.2 6.58E-06
20950 87 T/A 121 rs748774963 0.2508 None gnomAD-4.0.0 1.28176E-05
20951 88 E/Q 122 None 0.4038 None gnomAD-4.0.0 4.79083E-06
20952 89 S/G 123 rs769683530 0.1925 None gnomAD-2.1.1 4.03E-06
20952 89 S/G 123 rs769683530 0.1925 None gnomAD-4.0.0 1.20032E-06
20952 89 S/R 123 rs748109390 0.1925 None gnomAD-2.1.1 4.03E-06
20952 89 S/R 123 rs748109390 0.1925 None gnomAD-3.1.2 6.58E-06
20952 89 S/R 123 rs748109390 0.1925 None gnomAD-4.0.0 6.58033E-06
20953 90 K/N 124 rs765002114 0.9467 None gnomAD-2.1.1 2.5E-05
20953 90 K/N 124 rs765002114 0.9467 None gnomAD-3.1.2 3.95E-05
20953 90 K/N 124 rs765002114 0.9467 None gnomAD-4.0.0 1.79765E-05
20954 91 P/Q 126 None 0.4308 None gnomAD-4.0.0 6.84366E-07
20956 93 I/T 128 rs758926314 0.4965 None gnomAD-2.1.1 4.03E-06
20956 93 I/T 128 rs758926314 0.4965 None gnomAD-3.1.2 1.32E-05
20956 93 I/T 128 rs758926314 0.4965 None gnomAD-4.0.0 2.54147E-05
20958 95 K/E 131 None 0.5673 None gnomAD-4.0.0 1.20032E-06
20958 95 K/R 131 rs2049627530 0.5673 None gnomAD-3.1.2 6.58E-06
20958 95 K/R 131 rs2049627530 0.5673 None gnomAD-4.0.0 6.57635E-06