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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17047 1 L/I 1 None 0.5603 None gnomAD-4.0.0 1.20034E-06
17048 2 P/A 2 None 0.1291 None gnomAD-4.0.0 6.86911E-07
17048 2 P/L 2 rs747934823 0.1291 None gnomAD-2.1.1 1.23E-05
17048 2 P/L 2 rs747934823 0.1291 None gnomAD-4.0.0 3.21117E-06
17048 2 P/R 2 rs747934823 0.1291 None gnomAD-4.0.0 1.60558E-06
17048 2 P/S 2 rs769444545 0.1291 None gnomAD-2.1.1 7.27E-06
17048 2 P/S 2 rs769444545 0.1291 None gnomAD-3.1.2 6.58E-06
17048 2 P/S 2 rs769444545 0.1291 None gnomAD-4.0.0 4.35393E-06
17050 4 P/Q 4 None 0.4909 None gnomAD-4.0.0 4.10941E-06
17051 5 C/R 5 rs781155992 0.1143 None gnomAD-2.1.1 4.03E-06
17051 5 C/R 5 rs781155992 0.1143 MmD
Literature None
17051 5 C/R 5 rs781155992 0.1143 None gnomAD-4.0.0 1.59406E-06
17052 6 K/E 6 rs1451084974 0.3400 None gnomAD-3.1.2 1.32E-05
17052 6 K/E 6 rs1451084974 0.3400 None gnomAD-4.0.0 1.31536E-05
17053 7 D/G 7 None 0.5518 None gnomAD-4.0.0 6.84705E-07
17053 7 D/H 7 rs1454197786 0.5518 None gnomAD-2.1.1 3.19E-05
17053 7 D/H 7 rs1454197786 0.5518 None gnomAD-3.1.2 6.58E-06
17053 7 D/H 7 rs1454197786 0.5518 None gnomAD-4.0.0 2.0302E-06
17053 7 D/V 7 rs768940034 0.5518 None gnomAD-2.1.1 8.06E-06
17053 7 D/V 7 rs768940034 0.5518 None gnomAD-4.0.0 6.84705E-07
17054 8 I/N 9 None 0.1503 None gnomAD-4.0.0 1.20032E-06
17054 8 I/T 9 rs2056020027 0.1503 None gnomAD-4.0.0 1.20032E-06
17054 8 I/V 9 rs1277276562 0.1503 None gnomAD-2.1.1 8.06E-06
17054 8 I/V 9 rs1277276562 0.1503 None gnomAD-4.0.0 3.18787E-06
17056 10 A/E 12 rs747241356 0.3382 None gnomAD-2.1.1 8.06E-06
17056 10 A/E 12 rs747241356 0.3382 None gnomAD-4.0.0 4.10808E-06
17057 11 S/N 13 None 0.3077 None gnomAD-4.0.0 1.20032E-06
17058 12 D/H 14 None 0.5922 None gnomAD-4.0.0 2.73867E-06
17058 12 D/N 14 None 0.5922 None gnomAD-4.0.0 3.42334E-06
17059 13 I/V 15 rs188395969 0.2495 None gnomAD-2.1.1 8.94E-05
17059 13 I/V 15 rs188395969 0.2495 None gnomAD-3.1.2 5.92E-05
17059 13 I/V 15 rs188395969 0.2495 None 1000 genomes 3.99361E-04
17059 13 I/V 15 rs188395969 0.2495 None gnomAD-4.0.0 2.60427E-05
17060 14 T/N 16 None 0.2179 None gnomAD-4.0.0 1.5936E-06
17061 15 K/N 17 rs972424734 0.5136 None gnomAD-4.0.0 6.84631E-07
17061 15 K/R 17 rs1275839518 0.5136 None gnomAD-2.1.1 4.03E-06
17061 15 K/R 17 rs1275839518 0.5136 None gnomAD-4.0.0 3.18711E-06
17062 16 S/N 18 rs876658064 0.3190 None gnomAD-2.1.1 6.38E-05
17062 16 S/N 18 rs876658064 0.3190 None gnomAD-3.1.2 3.95E-05
17062 16 S/N 18 rs876658064 0.3190 None gnomAD-4.0.0 6.20084E-06
17062 16 S/R 18 rs2154198973 0.3190 None gnomAD-4.0.0 4.78051E-06
17062 16 S/T 18 rs876658064 0.3190 None gnomAD-4.0.0 3.42312E-06
17063 17 S/P 19 rs758563428 0.1775 None gnomAD-2.1.1 4.03E-06
17063 17 S/P 19 rs758563428 0.1775 None gnomAD-4.0.0 1.36924E-06
17066 20 L/S 22 None 0.1035 None gnomAD-4.0.0 1.20032E-06
17067 21 T/A 23 rs1045892065 0.3147 None gnomAD-2.1.1 4.03E-06
17067 21 T/A 23 rs1045892065 0.3147 None gnomAD-3.1.2 1.32E-05
17067 21 T/A 23 rs1045892065 0.3147 None gnomAD-4.0.0 1.15436E-05
17067 21 T/I 23 None 0.3147 None gnomAD-4.0.0 2.40064E-06
17068 22 W/R 24 rs2056011998 0.1146 None gnomAD-4.0.0 1.59329E-06
17068 22 W/S 24 None 0.1146 None gnomAD-4.0.0 1.20032E-06
17069 23 E/G 25 None 0.4416 None gnomAD-4.0.0 1.59323E-06
17070 24 P/A 26 None 0.4069 None gnomAD-4.0.0 1.20032E-06
17071 25 P/A 27 None 0.1755 None gnomAD-4.0.0 2.73829E-06
17071 25 P/L 27 None 0.1755 None gnomAD-4.0.0 1.59324E-06
17072 26 E/Q 28 rs1374988000 0.8091 None gnomAD-2.1.1 4.03E-06
17072 26 E/Q 28 rs1374988000 0.8091 None gnomAD-4.0.0 3.18644E-06
17074 28 D/V 30 rs1553693510 0.2315 None gnomAD-4.0.0 1.20033E-06
17075 29 G/D 31 rs2056008838 0.1807 None gnomAD-3.1.2 6.58E-06
17075 29 G/D 31 rs2056008838 0.1807 None gnomAD-4.0.0 6.57929E-06
17076 30 G/E 32 None 0.4538 None gnomAD-4.0.0 1.20033E-06
17077 31 T/I 33 None 0.3491 None gnomAD-4.0.0 1.20033E-06
17078 32 P/Q 34 None 0.6914 None gnomAD-4.0.0 1.59307E-06
17078 32 P/S 34 None 0.6914 None gnomAD-4.0.0 1.59308E-06
17079 33 I/V 35 None 0.1634 None gnomAD-4.0.0 2.40064E-06
17081 35 H/P 37 None 0.2487 None gnomAD-4.0.0 1.59302E-06
17082 36 Y/C 38 None 0.1139 None gnomAD-4.0.0 1.20032E-06
17082 36 Y/F 38 None 0.1139 None gnomAD-4.0.0 1.20032E-06
17083 37 V/F 39 rs746817480 0.1769 None gnomAD-2.1.1 2.5E-05
17083 37 V/F 39 rs746817480 0.1769 None gnomAD-3.1.2 7.24E-05
17083 37 V/F 39 rs746817480 0.1769 None gnomAD-4.0.0 1.28966E-04
17083 37 V/I 39 None 0.1769 None gnomAD-4.0.0 6.84535E-07
17086 40 R/C 42 rs751267287 0.3075 None gnomAD-2.1.1 4.03E-05
17086 40 R/C 42 rs751267287 0.3075 None gnomAD-4.0.0 2.80657E-05
17086 40 R/H 42 rs72632860 0.3075 None gnomAD-2.1.1 5.36E-05
17086 40 R/H 42 rs72632860 0.3075 None gnomAD-3.1.2 3.95E-05
17086 40 R/H 42 rs72632860 0.3075 None gnomAD-4.0.0 4.21622E-05
17086 40 R/L 42 None 0.3075 None gnomAD-4.0.0 2.05359E-06
17086 40 R/P 42 rs72632860 0.3075 None gnomAD-3.1.2 6.58E-06
17086 40 R/P 42 rs72632860 0.3075 None gnomAD-4.0.0 6.58059E-06
17086 40 R/S 42 None 0.3075 None gnomAD-4.0.0 3.42265E-06
17087 41 R/G 43 rs1483164102 0.1100 None gnomAD-2.1.1 8.05E-06
17087 41 R/G 43 rs1483164102 0.1100 None gnomAD-4.0.0 2.73803E-06
17087 41 R/T 43 None 0.1100 None gnomAD-4.0.0 1.59284E-06
17088 42 E/G 44 None 0.2679 None gnomAD-4.0.0 6.84497E-07
17088 42 E/Q 44 None 0.2679 None gnomAD-4.0.0 1.20032E-06
17089 43 A/G 50 None 0.3102 None gnomAD-4.0.0 1.59282E-06
17090 44 G/E 54 None 0.6656 None gnomAD-4.0.0 1.59281E-06
17091 45 R/T 60 None 0.5053 None gnomAD-4.0.0 1.20032E-06
17092 46 R/K 63 rs1207362275 0.9680 None gnomAD-2.1.1 4.03E-06
17092 46 R/K 63 rs1207362275 0.9680 None gnomAD-4.0.0 6.84498E-06
17094 48 Y/C 65 rs1314484899 0.1676 None gnomAD-2.1.1 4.03E-06
17094 48 Y/C 65 rs1314484899 0.1676 None gnomAD-4.0.0 4.77838E-06
17094 48 Y/H 65 None 0.1676 None gnomAD-4.0.0 2.73796E-06
17095 49 I/K 66 rs878877393 0.4385 None gnomAD-4.0.0 6.00161E-06
17095 49 I/T 66 None 0.4385 None gnomAD-4.0.0 2.40064E-06
17095 49 I/V 66 None 0.4385 None gnomAD-4.0.0 1.20032E-06
17096 50 P/L 67 rs772628026 0.5447 None gnomAD-2.1.1 8.05E-06
17096 50 P/L 67 rs772628026 0.5447 None gnomAD-4.0.0 6.16046E-06
17098 52 M/L 69 None 0.0827 None gnomAD-4.0.0 1.59281E-06
17098 52 M/T 69 None 0.0827 None gnomAD-4.0.0 1.20032E-06
17100 54 G/D 75 None 0.3889 None gnomAD-4.0.0 1.20032E-06
17100 54 G/S 75 None 0.3889 None gnomAD-4.0.0 1.20032E-06
17101 55 E/D 77 rs1406870908 0.3285 None gnomAD-3.1.2 6.58E-06
17101 55 E/D 77 rs1406870908 0.3285 None gnomAD-4.0.0 6.58198E-06
17101 55 E/K 77 None 0.3285 None gnomAD-4.0.0 1.59277E-06
17102 56 N/D 83 rs1184311554 0.5171 None gnomAD-2.1.1 3.19E-05
17102 56 N/D 83 rs1184311554 0.5171 None gnomAD-3.1.2 6.58E-06
17102 56 N/D 83 rs1184311554 0.5171 None gnomAD-4.0.0 3.84719E-06
17102 56 N/K 83 rs1290588810 0.5171 None gnomAD-2.1.1 4.03E-06
17102 56 N/K 83 rs1290588810 0.5171 None gnomAD-4.0.0 2.73795E-06
17103 57 K/E 88 rs769721025 0.3987 None gnomAD-2.1.1 4.03E-06
17103 57 K/E 88 rs769721025 0.3987 None gnomAD-4.0.0 3.18555E-06
17103 57 K/R 88 rs761668415 0.3987 None gnomAD-2.1.1 4.03E-06
17103 57 K/R 88 rs761668415 0.3987 None gnomAD-4.0.0 1.59277E-06
17104 58 L/P 89 rs1301202997 0.3001 None gnomAD-2.1.1 4.03E-06
17104 58 L/P 89 rs1301202997 0.3001 None gnomAD-4.0.0 1.59279E-06
17104 58 L/R 89 rs1301202997 0.3001 None gnomAD-4.0.0 3.18558E-06
17106 60 W/R 91 rs1360832418 0.3394 None gnomAD-2.1.1 4.03E-06
17106 60 W/R 91 rs1360832418 0.3394 None gnomAD-4.0.0 3.42242E-06
17107 61 T/P 92 None 0.3779 None gnomAD-4.0.0 1.20032E-06
17107 61 T/S 92 None 0.3779 None gnomAD-4.0.0 1.20032E-06
17108 62 V/M 93 None 0.1378 None gnomAD-4.0.0 3.60098E-06
17109 63 K/E 94 None 0.6861 None gnomAD-4.0.0 1.20032E-06
17110 64 D/G 96 None 0.8886 None gnomAD-4.0.0 1.59281E-06
17110 64 D/Y 96 rs1176787179 0.8886 None gnomAD-2.1.1 4.03E-06
17110 64 D/Y 96 rs1176787179 0.8886 None gnomAD-4.0.0 1.59281E-06
17112 66 I/L 98 None 0.5690 None gnomAD-4.0.0 6.84859E-07
17112 66 I/T 98 rs776500262 0.5690 None gnomAD-2.1.1 4.03E-06
17112 66 I/T 98 rs776500262 0.5690 None gnomAD-4.0.0 4.79143E-06
17113 67 P/L 99 rs763635220 0.4295 None gnomAD-4.0.0 1.5928E-06
17113 67 P/Q 99 rs763635220 0.4295 None gnomAD-4.0.0 3.18561E-06
17113 67 P/S 99 rs768641489 0.4295 None gnomAD-2.1.1 1.61E-05
17113 67 P/S 99 rs768641489 0.4295 None gnomAD-4.0.0 2.22991E-05
17114 68 N/S 100 None 0.8260 None gnomAD-4.0.0 1.59277E-06
17115 69 G/D 102 rs796362520 0.1517 None gnomAD-4.0.0 6.00161E-06
17118 72 F/L 105 rs1161061741 0.2172 None gnomAD-2.1.1 4.03E-06
17118 72 F/L 105 rs1161061741 0.2172 None gnomAD-4.0.0 6.84493E-07
17118 72 F/V 105 None 0.2172 None gnomAD-4.0.0 6.84493E-07
17119 73 F/L 106 rs772013942 0.1217 None gnomAD-2.1.1 4.03E-06
17119 73 F/L 106 rs772013942 0.1217 None gnomAD-4.0.0 3.18568E-06
17119 73 F/S 106 rs954360499 0.1217 None gnomAD-2.1.1 4.03E-06
17119 73 F/S 106 rs954360499 0.1217 None gnomAD-4.0.0 1.59282E-06
17119 73 F/V 106 rs370696020 0.1217 None gnomAD-2.1.1 7.51E-05
17119 73 F/V 106 rs370696020 0.1217 None gnomAD-3.1.2 1.97E-05
17119 73 F/V 106 rs370696020 0.1217 None gnomAD-4.0.0 3.53369E-05
17120 74 R/C 107 rs376834250 0.1256 None gnomAD-2.1.1 1.43E-05
17120 74 R/C 107 rs376834250 0.1256 None gnomAD-3.1.2 1.32E-05
17120 74 R/C 107 rs376834250 0.1256 None gnomAD-4.0.0 1.05408E-05
17120 74 R/H 107 rs778885931 0.1256 None gnomAD-2.1.1 2.42E-05
17120 74 R/H 107 rs778885931 0.1256 None gnomAD-3.1.2 4.61E-05
17120 74 R/H 107 rs778885931 0.1256 None gnomAD-4.0.0 3.286E-05
17120 74 R/L 107 None 0.1256 None gnomAD-4.0.0 6.84498E-07
17123 77 A/V 110 None 0.1035 None gnomAD-4.0.0 1.59286E-06
17125 79 N/K 112 rs1463917999 0.1018 None gnomAD-2.1.1 4.03E-06
17125 79 N/K 112 rs1463917999 0.1018 None gnomAD-4.0.0 1.59286E-06
17125 79 N/S 112 None 0.1018 None gnomAD-4.0.0 1.59285E-06
17126 80 K/E 113 None 0.8967 None gnomAD-4.0.0 3.18577E-06
17126 80 K/M 113 None 0.8967 None gnomAD-4.0.0 6.84513E-07
17126 80 K/R 113 rs757728544 0.8967 None gnomAD-2.1.1 1.61E-05
17126 80 K/R 113 rs757728544 0.8967 None gnomAD-3.1.2 6.58E-06
17126 80 K/R 113 rs757728544 0.8967 None gnomAD-4.0.0 8.68015E-06
17127 81 V/F 114 rs397517603 0.6409 None gnomAD-2.1.1 1.21E-05
17127 81 V/F 114 rs397517603 0.6409 None gnomAD-3.1.2 1.97E-05
17127 81 V/F 114 rs397517603 0.6409 None gnomAD-4.0.0 2.91409E-05
17127 81 V/L 114 rs397517603 0.6409 None gnomAD-2.1.1 4.03E-06
17127 81 V/L 114 rs397517603 0.6409 None gnomAD-3.1.2 1.32E-05
17127 81 V/L 114 rs397517603 0.6409 None gnomAD-4.0.0 6.8202E-06
17129 83 G/E 117 rs1372930722 0.2928 None gnomAD-3.1.2 6.58E-06
17129 83 G/E 117 rs1372930722 0.2928 None gnomAD-4.0.0 3.10016E-06
17130 84 G/E 118 None 0.1680 None gnomAD-4.0.0 1.20032E-06
17130 84 G/R 118 None 0.1680 None gnomAD-4.0.0 1.20032E-06
17133 87 I/T 121 rs373628708 0.2050 None gnomAD-3.1.2 6.58E-06
17133 87 I/T 121 rs373628708 0.2050 None gnomAD-4.0.0 2.48012E-06
17133 87 I/V 121 None 0.2050 None gnomAD-4.0.0 1.59313E-06
17135 89 L/P 123 rs756515794 0.1968 None gnomAD-2.1.1 4.03E-06
17135 89 L/P 123 rs756515794 0.1968 None gnomAD-4.0.0 1.59318E-06
17136 90 K/N 124 None 0.9905 None gnomAD-4.0.0 1.59321E-06
17137 91 N/K 125 rs751177363 0.7652 None gnomAD-2.1.1 7.16E-06
17137 91 N/K 125 rs751177363 0.7652 None gnomAD-3.1.2 2.63E-05
17137 91 N/K 125 rs751177363 0.7652 None gnomAD-4.0.0 6.41355E-06
17138 92 P/R 126 None 0.3323 None gnomAD-4.0.0 1.5933E-06
17138 92 P/S 126 None 0.3323 None gnomAD-4.0.0 1.59327E-06
17139 93 V/L 127 rs758008217 0.1669 None gnomAD-2.1.1 1.21E-05
17139 93 V/L 127 rs758008217 0.1669 None gnomAD-4.0.0 7.53044E-06
17140 94 I/F 129 None 0.4275 None gnomAD-4.0.0 1.59336E-06
17140 94 I/V 129 rs1457519537 0.4275 None gnomAD-2.1.1 4.03E-06
17140 94 I/V 129 rs1457519537 0.4275 None gnomAD-4.0.0 1.59336E-06
17141 95 A/D 130 None 0.0671 None gnomAD-4.0.0 1.59351E-06
17141 95 A/S 130 None 0.0671 None gnomAD-4.0.0 1.59348E-06
17142 96 Q/K 131 None 0.4441 None gnomAD-4.0.0 6.84643E-07
17143 97 D/N 132 rs1162344519 0.4616 None gnomAD-2.1.1 4.04E-06
17143 97 D/N 132 rs1162344519 0.4616 None gnomAD-4.0.0 1.59353E-06
17143 97 D/V 132 None 0.4616 None gnomAD-4.0.0 1.59357E-06