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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27863 1 P/R 1 None 0.4855 None gnomAD-4.0.0 6.85921E-07
27863 1 P/S 1 rs768816071 0.4855 None gnomAD-2.1.1 8.17E-06
27863 1 P/S 1 rs768816071 0.4855 None gnomAD-4.0.0 4.11501E-06
27864 2 P/L 2 rs1205644458 0.1104 None gnomAD-3.1.2 6.57E-06
27864 2 P/L 2 rs1205644458 0.1104 None gnomAD-4.0.0 1.24207E-06
27864 2 P/S 2 rs1553568366 0.1104 None gnomAD-4.0.0 1.37161E-06
27864 2 P/T 2 None 0.1104 None gnomAD-4.0.0 6.85804E-07
27865 3 L/F 3 rs1267898928 0.5033 None gnomAD-2.1.1 4.09E-06
27865 3 L/F 3 rs1267898928 0.5033 None gnomAD-4.0.0 1.60041E-06
27865 3 L/P 3 None 0.5033 None gnomAD-4.0.0 6.85811E-07
27867 5 P/R 5 rs374119634 0.1142 None gnomAD-2.1.1 3.99E-05
27867 5 P/R 5 rs374119634 0.1142 None gnomAD-3.1.2 5.92E-05
27867 5 P/R 5 rs374119634 0.1142 None gnomAD-4.0.0 1.10547E-04
27867 5 P/S 5 None 0.1142 None gnomAD-4.0.0 4.79982E-06
27868 6 G/R 6 None 0.1665 None gnomAD-4.0.0 6.85767E-07
27869 7 R/I 7 None 0.7073 None gnomAD-4.0.0 1.20032E-06
27869 7 R/K 7 rs1286079244 0.7073 None gnomAD-2.1.1 3.19E-05
27869 7 R/K 7 rs1286079244 0.7073 None gnomAD-3.1.2 6.57E-06
27869 7 R/K 7 rs1286079244 0.7073 None gnomAD-4.0.0 3.04486E-06
27870 8 V/G 9 None 0.1553 None gnomAD-4.0.0 1.20032E-06
27870 8 V/I 9 rs772190104 0.1553 None gnomAD-2.1.1 4.07E-06
27871 9 T/I 11 rs746421338 0.3244 None gnomAD-2.1.1 3.19E-05
27871 9 T/I 11 rs746421338 0.3244 None gnomAD-4.0.0 6.16812E-06
27871 9 T/N 11 None 0.3244 None gnomAD-4.0.0 6.85346E-07
27872 10 L/P 12 rs547274306 0.3428 None 1000 genomes 1.99681E-04
27872 10 L/R 12 None 0.3428 None gnomAD-4.0.0 1.37062E-06
27873 11 V/A 13 rs200775919 0.3558 None gnomAD-2.1.1 2.34204E-04
27873 11 V/A 13 rs200775919 0.3558 None gnomAD-3.1.2 1.70945E-04
27873 11 V/A 13 rs200775919 0.3558 None gnomAD-4.0.0 1.49534E-04
27874 12 D/E 14 rs771240950 0.5110 None gnomAD-2.1.1 8.11E-06
27874 12 D/E 14 rs771240950 0.5110 None gnomAD-3.1.2 6.57E-06
27874 12 D/E 14 rs771240950 0.5110 None gnomAD-4.0.0 6.82346E-06
27874 12 D/G 14 rs1377067134 0.5110 None gnomAD-3.1.2 6.57E-06
27874 12 D/G 14 rs1377067134 0.5110 None gnomAD-4.0.0 5.07499E-06
27874 12 D/V 14 rs1377067134 0.5110 None gnomAD-2.1.1 4.06E-06
27875 13 V/L 15 None 0.1201 None gnomAD-4.0.0 1.59558E-06
27877 15 R/C 17 rs527624888 0.5499 None gnomAD-2.1.1 3.59E-05
27877 15 R/C 17 rs527624888 0.5499 None gnomAD-3.1.2 3.95E-05
27877 15 R/C 17 rs527624888 0.5499 None 1000 genomes 3.99361E-04
27877 15 R/C 17 rs527624888 0.5499 None gnomAD-4.0.0 1.92252E-05
27877 15 R/G 17 None 0.5499 None gnomAD-4.0.0 1.36955E-06
27877 15 R/H 17 rs371345921 0.5499 None gnomAD-2.1.1 5.03E-05
27877 15 R/H 17 rs371345921 0.5499 None gnomAD-3.1.2 4.6E-05
27877 15 R/H 17 rs371345921 0.5499 None 1000 genomes 1.99681E-04
27877 15 R/H 17 rs371345921 0.5499 None gnomAD-4.0.0 2.29462E-05
27877 15 R/L 17 rs371345921 0.5499 None gnomAD-4.0.0 2.05442E-05
27878 16 N/D 18 None 0.4674 None gnomAD-4.0.0 7.20193E-06
27879 17 T/I 19 None 0.2296 None gnomAD-4.0.0 2.05367E-06
27880 18 A/T 20 rs1319675982 0.0946 None gnomAD-2.1.1 4.03E-06
27880 18 A/T 20 rs1319675982 0.0946 None gnomAD-4.0.0 1.369E-06
27882 20 I/M 22 None 0.0989 None gnomAD-4.0.0 1.59238E-06
27882 20 I/V 22 rs548211686 0.0989 None gnomAD-2.1.1 8.06E-06
27882 20 I/V 22 rs548211686 0.0989 None gnomAD-3.1.2 6.57E-06
27882 20 I/V 22 rs548211686 0.0989 None 1000 genomes 1.99681E-04
27882 20 I/V 22 rs548211686 0.0989 None gnomAD-4.0.0 2.47926E-06
27883 21 K/M 23 None 0.4178 None gnomAD-4.0.0 1.20032E-06
27883 21 K/N 23 rs878854337 0.4178 None gnomAD-2.1.1 1.21E-05
27883 21 K/N 23 rs878854337 0.4178 None gnomAD-3.1.2 6.57E-06
27883 21 K/N 23 rs878854337 0.4178 None gnomAD-4.0.0 5.12743E-06
27885 23 E/K 25 None 0.4221 None gnomAD-4.0.0 1.59231E-06
27887 25 P/Q 27 rs751121559 0.1507 None gnomAD-2.1.1 7.15E-06
27887 25 P/Q 27 rs751121559 0.1507 None gnomAD-3.1.2 6.58E-06
27887 25 P/Q 27 rs751121559 0.1507 None gnomAD-4.0.0 6.19908E-06
27889 27 S/N 29 rs1459332648 0.3559 None gnomAD-3.1.2 6.57E-06
27889 27 S/N 29 rs1459332648 0.3559 None gnomAD-4.0.0 2.5637E-06
27889 27 S/R 29 rs779485837 0.3559 None gnomAD-2.1.1 8.05E-06
27890 28 D/H 30 rs757900483 0.2985 None gnomAD-2.1.1 4.03E-06
27890 28 D/H 30 rs757900483 0.2985 None gnomAD-4.0.0 6.84417E-07
27890 28 D/N 30 None 0.2985 None gnomAD-4.0.0 6.84417E-07
27891 29 G/D 31 rs1184831372 0.4341 None gnomAD-2.1.1 4.03E-06
27891 29 G/D 31 rs1184831372 0.4341 None gnomAD-4.0.0 6.84436E-07
27891 29 G/V 31 rs1184831372 0.4341 None gnomAD-2.1.1 4.03E-06
27891 29 G/V 31 rs1184831372 0.4341 None gnomAD-4.0.0 2.73774E-06
27892 30 G/C 32 None 0.6586 None gnomAD-4.0.0 6.84401E-07
27892 30 G/S 32 rs765177625 0.6586 None gnomAD-2.1.1 4.03E-06
27892 30 G/S 32 rs765177625 0.6586 None gnomAD-4.0.0 1.3688E-05
27893 31 S/R 33 rs761618267 0.2709 None gnomAD-2.1.1 4.03E-06
27893 31 S/R 33 rs761618267 0.2709 None gnomAD-4.0.0 1.59279E-06
27894 32 K/Q 34 rs753572520 0.8014 None gnomAD-2.1.1 4.03E-06
27894 32 K/Q 34 rs753572520 0.8014 None gnomAD-4.0.0 1.59252E-06
27897 35 G/A 37 rs764302785 0.1414 None gnomAD-2.1.1 4.03E-06
27897 35 G/A 37 rs764302785 0.1414 None gnomAD-3.1.2 6.57E-06
27897 35 G/A 37 rs764302785 0.1414 None gnomAD-4.0.0 6.19864E-06
27897 35 G/S 37 None 0.1414 None gnomAD-4.0.0 6.84415E-07
27899 37 V/L 39 rs775678192 0.1749 None gnomAD-2.1.1 8.05E-06
27899 37 V/L 39 rs775678192 0.1749 None gnomAD-3.1.2 1.31E-05
27899 37 V/L 39 rs775678192 0.1749 None gnomAD-4.0.0 2.47947E-06
27901 39 E/G 41 rs1213668356 0.1720 None gnomAD-3.1.2 6.57E-06
27901 39 E/G 41 rs1213668356 0.1720 None gnomAD-4.0.0 6.57194E-06
27901 39 E/Q 41 rs1048498149 0.1720 None gnomAD-4.0.0 6.84468E-07
27902 40 M/I 42 None 0.1681 None gnomAD-4.0.0 1.59314E-06
27902 40 M/T 42 None 0.1681 None gnomAD-4.0.0 1.59284E-06
27904 42 T/A 44 rs1320086002 0.4115 None gnomAD-2.1.1 4.03E-06
27904 42 T/A 44 rs1320086002 0.4115 None gnomAD-4.0.0 1.59303E-06
27904 42 T/I 44 rs1704030695 0.4115 None gnomAD-4.0.0 3.18637E-06
27905 43 K/E 50 rs879057080 0.6571 None gnomAD-4.0.0 1.59339E-06
27907 45 S/I 60 None 0.2880 None gnomAD-4.0.0 3.42486E-06
27907 45 S/N 60 rs759630792 0.2880 None gnomAD-2.1.1 8.5E-05
27907 45 S/N 60 rs759630792 0.2880 None gnomAD-3.1.2 1.97E-05
27907 45 S/N 60 rs759630792 0.2880 None gnomAD-4.0.0 2.97749E-05
27907 45 S/R 60 rs1306149709 0.2880 None gnomAD-3.1.2 6.57E-06
27907 45 S/R 60 rs1306149709 0.2880 None gnomAD-4.0.0 1.20032E-06
27907 45 S/T 60 None 0.2880 None gnomAD-4.0.0 6.84972E-07
27911 49 S/N 66 rs1704021353 0.4677 None gnomAD-3.1.2 6.57E-06
27911 49 S/N 66 rs1704021353 0.4677 None gnomAD-4.0.0 6.57168E-06
27912 50 T/I 67 rs1704019364 0.4215 None gnomAD-3.1.2 6.57E-06
27912 50 T/I 67 rs1704019364 0.4215 None gnomAD-4.0.0 6.57445E-06
27913 51 C/R 68 None 0.2657 None gnomAD-4.0.0 1.59663E-06
27913 51 C/S 68 rs1296750287 0.2657 None gnomAD-4.0.0 6.85371E-07
27913 51 C/Y 68 rs1296750287 0.2657 None gnomAD-4.0.0 6.85371E-07
27914 52 T/A 69 rs188370772 0.3108 None gnomAD-2.1.1 8.28107E-04
27914 52 T/A 69 rs188370772 0.3108 None gnomAD-3.1.2 2.41181E-03
27914 52 T/A 69 rs188370772 0.3108 None 1000 genomes 3.19489E-03
27914 52 T/A 69 rs188370772 0.3108 None gnomAD-4.0.0 4.96972E-04
27914 52 T/K 69 rs1363810030 0.3108 None gnomAD-2.1.1 4.06E-06
27914 52 T/K 69 rs1363810030 0.3108 None gnomAD-4.0.0 2.05559E-06
27916 54 V/I 77 None 0.1940 None gnomAD-2.1.1 3.18E-05
27916 54 V/I 77 None 0.1940 None gnomAD-4.0.0 2.05582E-06
27916 54 V/L 77 rs770267115 0.1940 None gnomAD-2.1.1 4.06E-06
27916 54 V/L 77 rs770267115 0.1940 None gnomAD-4.0.0 6.85273E-07
27917 55 K/E 83 rs1363288051 0.8469 None gnomAD-2.1.1 4.06E-06
27917 55 K/E 83 rs1363288051 0.8469 None gnomAD-4.0.0 2.05588E-06
27917 55 K/N 83 rs746705899 0.8469 None gnomAD-3.1.2 6.57E-06
27917 55 K/N 83 rs746705899 0.8469 None gnomAD-4.0.0 1.24129E-06
27918 56 T/S 88 None 0.5182 None gnomAD-4.0.0 1.59739E-06
27921 59 A/V 91 None 0.1338 None gnomAD-4.0.0 1.60033E-06
27923 61 I/L 93 rs778728899 0.1089 None gnomAD-2.1.1 4.09E-06
27923 61 I/L 93 rs778728899 0.1089 None gnomAD-4.0.0 6.85695E-07
27923 61 I/M 93 rs1704000371 0.1089 None gnomAD-3.1.2 6.57E-06
27923 61 I/M 93 rs1704000371 0.1089 None gnomAD-4.0.0 6.57082E-06
27923 61 I/T 93 rs757118021 0.1089 None gnomAD-2.1.1 1.09E-05
27923 61 I/T 93 rs757118021 0.1089 None gnomAD-3.1.2 3.29E-05
27923 61 I/T 93 rs757118021 0.1089 None gnomAD-4.0.0 1.28596E-05
27923 61 I/V 93 rs778728899 0.1089 None gnomAD-2.1.1 4.09E-06
27923 61 I/V 93 rs778728899 0.1089 None gnomAD-4.0.0 1.37139E-06
27924 62 S/C 94 rs753769882 0.6448 None gnomAD-2.1.1 4.08E-06
27924 62 S/F 94 None 0.6448 None gnomAD-4.0.0 1.37121E-06
27924 62 S/P 94 None 0.6448 None gnomAD-4.0.0 1.20032E-06
27925 63 G/A 96 None 0.5357 None gnomAD-4.0.0 1.59986E-06
27927 65 T/P 98 rs1164046049 0.5298 None gnomAD-3.1.2 1.97E-05
27927 65 T/P 98 rs1164046049 0.5298 None gnomAD-4.0.0 3.10396E-06
27927 65 T/S 98 rs1271253201 0.5298 None gnomAD-2.1.1 4.07E-06
27927 65 T/S 98 rs1271253201 0.5298 None gnomAD-4.0.0 4.79454E-06
27928 66 A/S 99 rs1703988873 0.4281 None gnomAD-4.0.0 7.99859E-06
27928 66 A/V 99 None 0.4281 None gnomAD-4.0.0 2.74201E-06
27929 67 G/E 100 rs1273912998 0.3886 None gnomAD-2.1.1 1.22E-05
27929 67 G/E 100 rs1273912998 0.3886 None gnomAD-4.0.0 1.09671E-05
27929 67 G/R 100 rs786205297 0.3886 None gnomAD-2.1.1 1.63E-05
27929 67 G/R 100 rs786205297 0.3886 None gnomAD-4.0.0 1.57664E-05
27929 67 G/V 100 None 0.3886 None gnomAD-4.0.0 6.85441E-07
27930 68 E/G 102 rs901577328 0.4470 None gnomAD-3.1.2 6.57E-06
27930 68 E/G 102 rs901577328 0.4470 None gnomAD-4.0.0 6.57134E-06
27930 68 E/K 102 rs1225134445 0.4470 None gnomAD-2.1.1 4.08E-06
27930 68 E/K 102 rs1225134445 0.4470 None gnomAD-4.0.0 9.58797E-06
27931 69 E/A 103 None 0.2881 None gnomAD-4.0.0 1.02782E-05
27931 69 E/D 103 rs767740501 0.2881 None gnomAD-2.1.1 4.07E-06
27931 69 E/K 103 rs752902445 0.2881 None gnomAD-2.1.1 1.81E-05
27931 69 E/K 103 rs752902445 0.2881 None gnomAD-3.1.2 1.31E-05
27931 69 E/K 103 rs752902445 0.2881 None gnomAD-4.0.0 1.79975E-05
27931 69 E/V 103 None 0.2881 None gnomAD-4.0.0 6.85213E-07
27932 70 Y/C 104 None 0.1305 None gnomAD-4.0.0 1.37016E-06
27932 70 Y/H 104 rs759559839 0.1305 None gnomAD-2.1.1 2.85E-05
27932 70 Y/H 104 rs759559839 0.1305 None gnomAD-3.1.2 6.58E-06
27932 70 Y/H 104 rs759559839 0.1305 None gnomAD-4.0.0 8.06849E-06
27933 71 V/A 105 rs879145639 0.2161 None gnomAD-2.1.1 7.21E-06
27933 71 V/A 105 rs879145639 0.2161 None gnomAD-3.1.2 1.31E-05
27933 71 V/A 105 rs879145639 0.2161 None gnomAD-4.0.0 9.92531E-06
27933 71 V/L 105 None 0.2161 None gnomAD-4.0.0 1.59613E-06
27935 73 R/K 107 None 0.1390 None gnomAD-4.0.0 1.20032E-06
27936 74 V/A 108 rs774435769 0.0876 None gnomAD-2.1.1 2.83E-05
27936 74 V/A 108 rs774435769 0.0876 None gnomAD-3.1.2 1.31E-05
27936 74 V/A 108 rs774435769 0.0876 None gnomAD-4.0.0 1.66807E-05
27936 74 V/I 108 rs1703970661 0.0876 None gnomAD-4.0.0 5.47831E-06
27938 76 A/E 110 rs1369391499 0.0735 None gnomAD-3.1.2 6.57E-06
27938 76 A/E 110 rs1369391499 0.0735 None gnomAD-4.0.0 6.57246E-06
27938 76 A/G 110 rs1369391499 0.0735 None gnomAD-2.1.1 4.04E-06
27938 76 A/G 110 rs1369391499 0.0735 None gnomAD-4.0.0 1.59316E-06
27938 76 A/T 110 rs1405100475 0.0735 None gnomAD-2.1.1 4.04E-06
27938 76 A/T 110 rs1405100475 0.0735 None gnomAD-3.1.2 6.57E-06
27938 76 A/T 110 rs1405100475 0.0735 None gnomAD-4.0.0 3.84754E-06
27940 78 N/D 112 None 0.1206 None gnomAD-4.0.0 1.20032E-06
27941 79 E/K 113 rs545954394 0.7880 None gnomAD-2.1.1 2.42E-05
27941 79 E/K 113 rs545954394 0.7880 None gnomAD-3.1.2 3.94E-05
27941 79 E/K 113 rs545954394 0.7880 None 1000 genomes 1.99681E-04
27941 79 E/K 113 rs545954394 0.7880 None gnomAD-4.0.0 3.78119E-05
27942 80 K/T 114 rs1703962301 0.7245 None gnomAD-3.1.2 6.57E-06
27942 80 K/T 114 rs1703962301 0.7245 None gnomAD-4.0.0 6.57134E-06
27943 81 G/E 115 rs763624309 0.2122 None gnomAD-4.0.0 1.36882E-06
27943 81 G/R 115 rs886055236 0.2122 None gnomAD-2.1.1 4.03E-06
27943 81 G/R 115 rs886055236 0.2122 None gnomAD-3.1.2 6.57E-06
27943 81 G/R 115 rs886055236 0.2122 None gnomAD-4.0.0 6.84407E-07
27944 82 R/I 117 rs773829475 0.5524 None gnomAD-2.1.1 8.06E-06
27944 82 R/I 117 rs773829475 0.5524 None gnomAD-4.0.0 3.1847E-06
27944 82 R/K 117 rs773829475 0.5524 None gnomAD-2.1.1 4.03E-06
27944 82 R/K 117 rs773829475 0.5524 None gnomAD-3.1.2 6.57E-06
27944 82 R/K 117 rs773829475 0.5524 None gnomAD-4.0.0 2.5635E-06
27945 83 S/R 118 None 0.1053 None gnomAD-4.0.0 2.73762E-06
27946 84 D/N 119 rs1360228493 0.8198 None gnomAD-3.1.2 1.31E-05
27946 84 D/N 119 rs1360228493 0.8198 None gnomAD-4.0.0 3.84475E-06
27948 86 R/T 121 None 0.3785 None gnomAD-4.0.0 1.59229E-06
27950 88 L/F 123 None 0.1771 None gnomAD-4.0.0 1.59216E-06
27950 88 L/I 123 None 0.1771 None gnomAD-4.0.0 1.59216E-06
27950 88 L/P 123 None 0.1771 None gnomAD-4.0.0 2.05312E-06
27951 89 G/A 124 None 0.5769 None gnomAD-4.0.0 4.80129E-06
27951 89 G/E 124 rs1316247758 0.5769 None gnomAD-3.1.2 6.57E-06
27951 89 G/E 124 rs1316247758 0.5769 None gnomAD-4.0.0 2.0299E-06
27951 89 G/R 124 rs786205374 0.5769 None gnomAD-4.0.0 2.05312E-06
27953 91 P/S 126 rs770320215 0.4983 None gnomAD-2.1.1 4.03E-06
27953 91 P/S 126 rs770320215 0.4983 None gnomAD-3.1.2 6.57E-06
27953 91 P/S 126 rs770320215 0.4983 None gnomAD-4.0.0 6.57454E-06
27954 92 V/I 127 None 0.1493 None gnomAD-4.0.0 6.84384E-07
27954 92 V/L 127 rs1703951174 0.1493 None gnomAD-4.0.0 6.84384E-07
27955 93 I/N 129 None 0.4135 None gnomAD-4.0.0 1.59219E-06
27956 94 A/S 130 None 0.0794 None gnomAD-4.0.0 2.05323E-06
27957 95 R/K 131 rs148067743 0.5766 None gnomAD-2.1.1 4.03E-06
27957 95 R/K 131 rs148067743 0.5766 None gnomAD-3.1.2 6.57E-06
27957 95 R/K 131 rs148067743 0.5766 None gnomAD-4.0.0 1.85949E-06
27957 95 R/M 131 None 0.5766 None gnomAD-4.0.0 6.84421E-07
27957 95 R/T 131 rs148067743 0.5766 None gnomAD-2.1.1 1.45153E-04
27957 95 R/T 131 rs148067743 0.5766 None gnomAD-3.1.2 1.51183E-04
27957 95 R/T 131 rs148067743 0.5766 None 1000 genomes 3.99361E-04
27957 95 R/T 131 rs148067743 0.5766 None gnomAD-4.0.0 6.07436E-05