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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25990 1 E/D 1 rs532095547 0.5225 None gnomAD-2.1.1 4.02E-06
25990 1 E/D 1 rs532095547 0.5225 None gnomAD-4.0.0 6.84301E-07
25990 1 E/G 1 None 0.5225 None gnomAD-4.0.0 1.59178E-06
25993 4 P/H 4 rs771646684 0.4458 None gnomAD-3.1.2 6.58E-06
25993 4 P/H 4 rs771646684 0.4458 None gnomAD-4.0.0 1.23962E-06
25993 4 P/L 4 rs771646684 0.4458 None gnomAD-2.1.1 1.43E-05
25993 4 P/L 4 rs771646684 0.4458 None gnomAD-3.1.2 6.58E-06
25993 4 P/L 4 rs771646684 0.4458 None gnomAD-4.0.0 6.81791E-06
25994 5 P/L 5 rs1375270001 0.1178 None gnomAD-2.1.1 4.02E-06
25994 5 P/L 5 rs1375270001 0.1178 None gnomAD-4.0.0 1.02646E-05
25994 5 P/S 5 None 0.1178 None gnomAD-4.0.0 9.60257E-06
25995 6 G/C 6 None 0.2067 None gnomAD-4.0.0 1.59181E-06
25995 6 G/D 6 rs745801476 0.2067 None gnomAD-2.1.1 3.19E-05
25995 6 G/D 6 rs745801476 0.2067 None gnomAD-3.1.2 6.58E-06
25995 6 G/D 6 rs745801476 0.2067 None gnomAD-4.0.0 6.57877E-06
25995 6 G/S 6 None 0.2067 None gnomAD-4.0.0 1.59181E-06
25995 6 G/V 6 rs745801476 0.2067 None gnomAD-2.1.1 4.02E-06
25995 6 G/V 6 rs745801476 0.2067 None gnomAD-4.0.0 1.36863E-06
25997 8 P/Q 9 rs560308739 0.1020 None gnomAD-3.1.2 6.58E-06
25997 8 P/Q 9 rs560308739 0.1020 None 1000 genomes 1.99681E-04
25997 8 P/Q 9 rs560308739 0.1020 None gnomAD-4.0.0 6.5716E-06
25997 8 P/R 9 rs560308739 0.1020 None gnomAD-4.0.0 1.20032E-06
25997 8 P/S 9 None 0.1020 None gnomAD-4.0.0 6.84314E-07
25997 8 P/T 9 None 0.1020 None gnomAD-4.0.0 6.84314E-07
25998 9 F/L 11 None 0.2709 None gnomAD-4.0.0 1.59185E-06
26000 11 T/I 13 rs794729506 0.4069 None gnomAD-2.1.1 8.05E-06
26000 11 T/I 13 rs794729506 0.4069 None gnomAD-3.1.2 1.32E-05
26000 11 T/I 13 rs794729506 0.4069 None gnomAD-4.0.0 8.67745E-06
26001 12 A/V 14 rs774218394 0.3464 None gnomAD-2.1.1 4.03E-06
26002 13 I/M 15 None 0.2489 None gnomAD-4.0.0 2.05303E-06
26003 14 S/P 16 None 0.1223 None gnomAD-4.0.0 1.59201E-06
26004 15 K/E 17 rs770885887 0.4144 None gnomAD-2.1.1 4.03E-06
26004 15 K/E 17 rs770885887 0.4144 None gnomAD-4.0.0 1.20032E-06
26006 17 S/A 19 rs749079480 0.1105 None gnomAD-4.0.0 1.59204E-06
26006 17 S/T 19 rs749079480 0.1105 None gnomAD-2.1.1 4.03E-06
26006 17 S/T 19 rs749079480 0.1105 None gnomAD-4.0.0 1.59204E-06
26006 17 S/Y 19 None 0.1105 None gnomAD-4.0.0 1.20032E-06
26007 18 M/I 20 rs786205378 0.0637 None gnomAD-4.0.0 1.20032E-06
26007 18 M/T 20 rs372188921 0.0637 None gnomAD-2.1.1 1.79E-05
26007 18 M/T 20 rs372188921 0.0637 None gnomAD-3.1.2 2.63E-05
26007 18 M/T 20 rs372188921 0.0637 None gnomAD-4.0.0 2.41739E-05
26007 18 M/V 20 rs777587682 0.0637 None gnomAD-2.1.1 8.06E-06
26007 18 M/V 20 rs777587682 0.0637 None gnomAD-4.0.0 1.36869E-06
26008 19 V/A 21 None 0.2057 None gnomAD-4.0.0 1.36871E-06
26008 19 V/D 21 None 0.2057 None gnomAD-4.0.0 6.84356E-07
26008 19 V/F 21 None 0.2057 None gnomAD-4.0.0 6.8436E-07
26008 19 V/G 21 rs781254081 0.2057 None gnomAD-2.1.1 4.03E-06
26008 19 V/G 21 rs781254081 0.2057 None gnomAD-4.0.0 6.84356E-07
26008 19 V/I 21 rs748315674 0.2057 None gnomAD-2.1.1 8.06E-06
26008 19 V/I 21 rs748315674 0.2057 None gnomAD-4.0.0 2.73744E-06
26009 20 I/M 22 rs951099049 0.0582 None gnomAD-4.0.0 1.59205E-06
26009 20 I/T 22 rs1328584440 0.0582 None gnomAD-2.1.1 4.03E-06
26009 20 I/T 22 rs1328584440 0.0582 None gnomAD-4.0.0 4.10606E-06
26011 22 W/C 24 None 0.0812 None gnomAD-4.0.0 1.59208E-06
26013 24 E/D 26 rs755117644 0.5450 None gnomAD-2.1.1 2.42E-05
26013 24 E/D 26 rs755117644 0.5450 None gnomAD-3.1.2 4.6E-05
26013 24 E/D 26 rs755117644 0.5450 None gnomAD-4.0.0 4.64872E-05
26014 25 P/L 27 rs766846103 0.1440 None gnomAD-2.1.1 1.21E-05
26014 25 P/L 27 rs766846103 0.1440 None gnomAD-4.0.0 8.21237E-06
26014 25 P/Q 27 rs766846103 0.1440 None gnomAD-3.1.2 6.58E-06
26014 25 P/Q 27 rs766846103 0.1440 None gnomAD-4.0.0 6.57739E-06
26014 25 P/T 27 rs751646451 0.1440 None gnomAD-2.1.1 4.03E-06
26014 25 P/T 27 rs751646451 0.1440 None gnomAD-4.0.0 1.59201E-06
26016 27 N/T 29 None 0.6602 None gnomAD-4.0.0 3.60097E-06
26017 28 N/D 30 None 0.3393 None gnomAD-4.0.0 1.20032E-06
26018 29 G/S 31 rs1706620113 0.3995 None gnomAD-4.0.0 1.59206E-06
26020 31 S/N 33 None 0.1967 None gnomAD-4.0.0 1.20032E-06
26020 31 S/R 33 None 0.1967 None gnomAD-4.0.0 1.59214E-06
26021 32 P/R 34 rs727504982 0.6519 None gnomAD-2.1.1 3.19E-05
26021 32 P/R 34 rs727504982 0.6519 None gnomAD-4.0.0 7.96077E-06
26021 32 P/T 34 None 0.6519 None gnomAD-4.0.0 1.20032E-06
26022 33 V/D 35 rs562356397 0.1506 None gnomAD-2.1.1 1.21E-05
26022 33 V/D 35 rs562356397 0.1506 None gnomAD-3.1.2 6.58E-06
26022 33 V/D 35 rs562356397 0.1506 None 1000 genomes 1.99681E-04
26022 33 V/D 35 rs562356397 0.1506 None gnomAD-4.0.0 2.47925E-06
26022 33 V/G 35 None 0.1506 None gnomAD-4.0.0 2.05312E-06
26022 33 V/I 35 rs374764110 0.1506 None gnomAD-2.1.1 8.96E-05
26022 33 V/I 35 rs374764110 0.1506 None gnomAD-3.1.2 1.84143E-04
26022 33 V/I 35 rs374764110 0.1506 None 1000 genomes 1.99681E-04
26022 33 V/I 35 rs374764110 0.1506 None gnomAD-4.0.0 5.45456E-05
26022 33 V/L 35 rs374764110 0.1506 None gnomAD-3.1.2 1.32E-05
26022 33 V/L 35 rs374764110 0.1506 None gnomAD-4.0.0 1.31428E-05
26023 34 I/T 36 rs572384303 0.2119 None gnomAD-2.1.1 5.24659E-04
26023 34 I/T 36 rs572384303 0.2119 None gnomAD-3.1.2 1.38092E-04
26023 34 I/T 36 rs572384303 0.2119 None 1000 genomes 1.39776E-03
26023 34 I/T 36 rs572384303 0.2119 None gnomAD-4.0.0 2.36772E-04
26024 35 G/D 37 rs767272004 0.0581 None gnomAD-2.1.1 1.21E-05
26024 35 G/D 37 rs767272004 0.0581 None gnomAD-4.0.0 9.55314E-06
26024 35 G/R 37 rs775212992 0.0581 None gnomAD-2.1.1 1.21E-05
26024 35 G/R 37 rs775212992 0.0581 None gnomAD-4.0.0 9.55292E-06
26025 36 Y/D 38 rs759173173 0.0762 None gnomAD-2.1.1 4.04E-06
26025 36 Y/D 38 rs759173173 0.0762 None gnomAD-4.0.0 1.59216E-06
26026 37 H/N 39 None 0.2113 None gnomAD-4.0.0 1.59222E-06
26026 37 H/Q 39 rs1353297321 0.2113 None gnomAD-4.0.0 6.84382E-07
26026 37 H/Y 39 rs1164632947 0.2113 None gnomAD-2.1.1 4.04E-06
26026 37 H/Y 39 rs1164632947 0.2113 None gnomAD-4.0.0 1.59222E-06
26027 38 L/P 40 rs773883465 0.0660 None gnomAD-2.1.1 8.07E-06
26027 38 L/P 40 rs773883465 0.0660 None gnomAD-3.1.2 6.58E-06
26027 38 L/P 40 rs773883465 0.0660 None gnomAD-4.0.0 1.48767E-05
26029 40 R/K 42 None 0.2293 None gnomAD-4.0.0 1.20032E-06
26033 44 N/D 54 rs1343439092 0.9765 None gnomAD-2.1.1 3.19E-05
26033 44 N/D 54 rs1343439092 0.9765 None gnomAD-3.1.2 6.57E-06
26033 44 N/D 54 rs1343439092 0.9765 None gnomAD-4.0.0 6.57471E-06
26034 45 S/N 60 None 0.2622 None gnomAD-4.0.0 1.20032E-06
26035 46 I/V 63 None 1.0208 None gnomAD-4.0.0 1.59217E-06
26036 47 L/F 64 rs904868866 0.7434 None gnomAD-2.1.1 4.04E-06
26036 47 L/F 64 rs904868866 0.7434 None gnomAD-3.1.2 6.58E-06
26036 47 L/F 64 rs904868866 0.7434 None gnomAD-4.0.0 2.05312E-06
26036 47 L/S 64 None 0.7434 None gnomAD-4.0.0 1.59218E-06
26037 48 W/R 65 rs770807921 0.2332 None gnomAD-2.1.1 4.04E-06
26037 48 W/R 65 rs770807921 0.2332 None gnomAD-4.0.0 1.59216E-06
26038 49 T/A 66 None 0.4798 None gnomAD-4.0.0 1.20032E-06
26038 49 T/R 66 rs749204661 0.4798 None gnomAD-2.1.1 4.84E-05
26038 49 T/R 66 rs749204661 0.4798 None gnomAD-3.1.2 1.32E-05
26038 49 T/R 66 rs749204661 0.4798 None gnomAD-4.0.0 2.2936E-05
26040 51 V/F 68 rs576341346 0.1772 None gnomAD-2.1.1 1.21E-05
26040 51 V/F 68 rs576341346 0.1772 None gnomAD-3.1.2 1.97E-05
26040 51 V/F 68 rs576341346 0.1772 None 1000 genomes 1.99681E-04
26040 51 V/F 68 rs576341346 0.1772 None gnomAD-4.0.0 6.81811E-05
26041 52 N/K 69 rs556395967 0.1184 None gnomAD-2.1.1 8.07E-06
26041 52 N/K 69 rs556395967 0.1184 None gnomAD-3.1.2 6.58E-06
26041 52 N/K 69 rs556395967 0.1184 None 1000 genomes 1.99681E-04
26041 52 N/K 69 rs556395967 0.1184 None gnomAD-4.0.0 3.09917E-06
26042 53 K/T 70 rs1261267302 1.0556 None gnomAD-2.1.1 4.04E-06
26042 53 K/T 70 rs1261267302 1.0556 None gnomAD-4.0.0 5.4749E-06
26044 55 I/V 75 rs755172743 0.1987 None gnomAD-2.1.1 3.63E-05
26044 55 I/V 75 rs755172743 0.1987 None gnomAD-3.1.2 6.57E-06
26044 55 I/V 75 rs755172743 0.1987 None gnomAD-4.0.0 6.81793E-06
26046 57 H/N 83 rs747097682 0.6295 None gnomAD-2.1.1 3.63E-05
26046 57 H/N 83 rs747097682 0.6295 None gnomAD-3.1.2 6.58E-06
26046 57 H/N 83 rs747097682 0.6295 None gnomAD-4.0.0 1.28176E-05
26046 57 H/R 83 rs780141110 0.6295 None gnomAD-2.1.1 7.16E-06
26046 57 H/R 83 rs780141110 0.6295 None gnomAD-3.1.2 1.31E-05
26046 57 H/R 83 rs780141110 0.6295 None gnomAD-4.0.0 3.04495E-06
26046 57 H/Y 83 rs747097682 0.6295 None gnomAD-2.1.1 4.03E-06
26046 57 H/Y 83 rs747097682 0.6295 None gnomAD-3.1.2 6.58E-06
26046 57 H/Y 83 rs747097682 0.6295 None gnomAD-4.0.0 3.84526E-06
26047 58 D/H 88 rs1315662301 0.3776 None gnomAD-4.0.0 6.84331E-07
26047 58 D/N 88 rs1315662301 0.3776 None gnomAD-2.1.1 4.03E-06
26047 58 D/N 88 rs1315662301 0.3776 None gnomAD-4.0.0 2.73732E-06
26048 59 T/A 89 None 0.1825 None gnomAD-4.0.0 1.59194E-06
26048 59 T/P 89 rs794729508 0.1825 None gnomAD-2.1.1 3.19E-05
26048 59 T/P 89 rs794729508 0.1825 None gnomAD-3.1.2 6.58E-06
26048 59 T/P 89 rs794729508 0.1825 None gnomAD-4.0.0 2.56329E-06
26048 59 T/S 89 rs1383437099 0.1825 None gnomAD-2.1.1 4.03E-06
26048 59 T/S 89 rs1383437099 0.1825 None gnomAD-4.0.0 1.5919E-06
26049 60 Q/K 90 rs1706572074 0.3323 None gnomAD-3.1.2 6.58E-06
26049 60 Q/K 90 rs1706572074 0.3323 None gnomAD-4.0.0 6.57791E-06
26050 61 F/L 91 None 0.1737 None gnomAD-4.0.0 1.59192E-06
26052 63 A/V 93 rs1706569332 0.0888 None gnomAD-4.0.0 3.18371E-06
26053 64 Q/H 94 rs1475071129 0.5366 None gnomAD-2.1.1 3.19E-05
26053 64 Q/H 94 rs1475071129 0.5366 None gnomAD-3.1.2 6.58E-06
26053 64 Q/H 94 rs1475071129 0.5366 None gnomAD-4.0.0 6.57531E-06
26053 64 Q/R 94 None 0.5366 None gnomAD-4.0.0 1.20032E-06
26054 65 N/T 96 None 0.8088 None gnomAD-4.0.0 1.20032E-06
26055 66 L/I 97 rs765696931 0.1054 None gnomAD-2.1.1 4.03E-06
26055 66 L/I 97 rs765696931 0.1054 None gnomAD-4.0.0 6.84311E-07
26055 66 L/V 97 rs765696931 0.1054 None gnomAD-2.1.1 4.03E-06
26055 66 L/V 97 rs765696931 0.1054 None gnomAD-4.0.0 4.79018E-06
26058 69 G/S 100 None 0.3408 None gnomAD-4.0.0 1.59184E-06
26059 70 I/T 102 rs757758607 0.3487 None gnomAD-2.1.1 1.43E-05
26059 70 I/T 102 rs757758607 0.3487 None gnomAD-3.1.2 6.57E-06
26059 70 I/T 102 rs757758607 0.3487 None gnomAD-4.0.0 6.19787E-06
26061 72 Y/C 104 None 0.1012 None gnomAD-4.0.0 1.20033E-06
26061 72 Y/N 104 None 0.1012 None gnomAD-4.0.0 8.40225E-06
26062 73 E/D 105 None 0.2630 None gnomAD-4.0.0 1.59178E-06
26064 75 R/G 107 rs767325298 0.1909 None gnomAD-2.1.1 4.03E-06
26064 75 R/K 107 None 0.1909 None gnomAD-4.0.0 1.20032E-06
26065 76 V/A 108 None 0.0546 None gnomAD-4.0.0 2.05289E-06
26065 76 V/G 108 rs931947649 0.0546 None gnomAD-2.1.1 4.02E-06
26065 76 V/G 108 rs931947649 0.0546 None gnomAD-3.1.2 1.32E-05
26065 76 V/G 108 rs931947649 0.0546 None gnomAD-4.0.0 3.71928E-06
26065 76 V/M 108 rs1371536406 0.0546 None gnomAD-2.1.1 4.02E-06
26065 76 V/M 108 rs1371536406 0.0546 None gnomAD-4.0.0 4.7901E-06
26067 78 A/D 110 None 0.0848 None gnomAD-4.0.0 1.59173E-06
26069 80 N/S 112 rs751057466 0.0765 None gnomAD-2.1.1 4.02E-06
26069 80 N/S 112 rs751057466 0.0765 None gnomAD-4.0.0 1.59172E-06
26070 81 I/T 113 None 0.7009 None gnomAD-4.0.0 2.40064E-06
26070 81 I/V 113 rs765860384 0.7009 None gnomAD-2.1.1 4.02E-06
26070 81 I/V 113 rs765860384 0.7009 None gnomAD-4.0.0 1.59172E-06
26071 82 V/I 114 rs1706545322 0.5591 None gnomAD-3.1.2 6.58E-06
26071 82 V/I 114 rs1706545322 0.5591 None gnomAD-4.0.0 5.12608E-06
26072 83 G/A 115 rs773200867 0.1620 None gnomAD-3.1.2 6.58E-06
26072 83 G/A 115 rs773200867 0.1620 None gnomAD-4.0.0 8.97072E-06
26072 83 G/C 115 rs762807103 0.1620 None gnomAD-2.1.1 1.07E-05
26072 83 G/C 115 rs762807103 0.1620 None gnomAD-3.1.2 1.32E-05
26072 83 G/C 115 rs762807103 0.1620 None gnomAD-4.0.0 3.84468E-06
26072 83 G/D 115 None 0.1620 None gnomAD-2.1.1 8.04E-06
26072 83 G/D 115 None 0.1620 None gnomAD-4.0.0 1.59175E-06
26072 83 G/R 115 rs762807103 0.1620 None gnomAD-2.1.1 4.02E-06
26072 83 G/R 115 rs762807103 0.1620 None gnomAD-4.0.0 1.59174E-06
26072 83 G/V 115 rs773200867 0.1620 None gnomAD-2.1.1 4.02E-06
26072 83 G/V 115 rs773200867 0.1620 None gnomAD-4.0.0 1.59175E-06
26073 84 V/I 117 rs769707850 0.4049 None gnomAD-2.1.1 1.61E-05
26073 84 V/I 117 rs769707850 0.4049 None gnomAD-4.0.0 4.10578E-06
26073 84 V/L 117 None 0.4049 None gnomAD-4.0.0 6.84297E-07
26074 85 G/D 118 None 0.2506 None gnomAD-4.0.0 1.59174E-06
26074 85 G/S 118 None 0.2506 None gnomAD-4.0.0 1.59175E-06
26074 85 G/V 118 None 0.2506 None gnomAD-4.0.0 1.59174E-06
26075 86 K/I 119 rs776380915 0.8277 None gnomAD-2.1.1 4.02E-06
26075 86 K/I 119 rs776380915 0.8277 None gnomAD-3.1.2 6.58E-06
26075 86 K/I 119 rs776380915 0.8277 None gnomAD-4.0.0 6.57592E-06
26077 88 S/R 121 rs1553596375 0.1573 None gnomAD-3.1.2 6.58E-06
26077 88 S/R 121 rs1553596375 0.1573 None gnomAD-4.0.0 2.56329E-06
26078 89 K/N 122 rs1706533541 0.8203 None gnomAD-3.1.2 6.58E-06
26078 89 K/N 122 rs1706533541 0.8203 None gnomAD-4.0.0 6.57531E-06
26079 90 N/H 123 rs1331149411 0.4845 None gnomAD-4.0.0 1.36859E-06
26081 92 E/D 125 rs768895653 0.7816 None gnomAD-2.1.1 8.04E-06
26081 92 E/D 125 rs768895653 0.7816 None gnomAD-3.1.2 6.57E-06
26081 92 E/D 125 rs768895653 0.7816 None gnomAD-4.0.0 1.30155E-05
26082 93 C/G 126 rs794727452 0.2895 None gnomAD-4.0.0 2.05288E-06
26082 93 C/S 126 rs794727452 0.2895 None gnomAD-2.1.1 7.14E-06
26082 93 C/S 126 rs794727452 0.2895 None gnomAD-3.1.2 2.63E-05
26082 93 C/S 126 rs794727452 0.2895 None gnomAD-4.0.0 1.23959E-05
26083 94 Y/C 127 rs910116004 0.2058 None gnomAD-2.1.1 7.14E-06
26083 94 Y/C 127 rs910116004 0.2058 None gnomAD-3.1.2 1.31E-05
26083 94 Y/C 127 rs910116004 0.2058 None gnomAD-4.0.0 3.71872E-06
26084 95 V/A 129 rs1252241115 0.3595 None gnomAD-3.1.2 6.57E-06
26084 95 V/A 129 rs1252241115 0.3595 None gnomAD-4.0.0 6.57497E-06
26084 95 V/I 129 None 0.3595 None gnomAD-4.0.0 3.18356E-06
26086 97 R/K 131 rs1394737177 0.6712 None gnomAD-2.1.1 4.02E-06
26087 98 D/V 132 rs1462639599 0.5646 None gnomAD-2.1.1 4.02E-06
26087 98 D/V 132 rs1462639599 0.5646 None gnomAD-4.0.0 1.59178E-06
26087 98 D/Y 132 rs1169880412 0.5646 None gnomAD-2.1.1 8.04E-06
26087 98 D/Y 132 rs1169880412 0.5646 None gnomAD-3.1.2 6.58E-06
26087 98 D/Y 132 rs1169880412 0.5646 None gnomAD-4.0.0 4.95844E-06