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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30030 1 V/I 1 rs1167897212 0.5440 None gnomAD-2.1.1 4.02E-06
30030 1 V/I 1 rs1167897212 0.5440 None gnomAD-4.0.0 1.20033E-06
30031 2 P/S 2 rs538582097 0.1024 None gnomAD-3.1.2 6.57E-06
30031 2 P/S 2 rs538582097 0.1024 None 1000 genomes 1.99681E-04
30031 2 P/S 2 rs538582097 0.1024 None gnomAD-4.0.0 2.02964E-06
30031 2 P/T 2 rs538582097 0.1024 None gnomAD-2.1.1 4.02E-06
30035 6 R/C 6 rs397517747 0.4771 None gnomAD-2.1.1 8.04E-06
30035 6 R/C 6 rs397517747 0.4771 None gnomAD-4.0.0 6.84189E-06
30035 6 R/H 6 rs199895320 0.4771 None gnomAD-2.1.1 3.57E-05
30035 6 R/H 6 rs199895320 0.4771 None gnomAD-3.1.2 9.86E-05
30035 6 R/H 6 rs199895320 0.4771 None gnomAD-4.0.0 4.83313E-05
30036 7 D/A 7 None 0.5266 None gnomAD-4.0.0 2.05255E-06
30036 7 D/G 7 rs1699937452 0.5266 None gnomAD-4.0.0 2.05255E-06
30036 7 D/Y 7 rs959063938 0.5266 None gnomAD-4.0.0 6.36456E-06
30038 9 S/L 11 rs1035231480 0.2594 None gnomAD-4.0.0 3.60097E-06
30039 10 M/V 12 rs778266858 0.2992 None gnomAD-2.1.1 1.21E-05
30039 10 M/V 12 rs778266858 0.2992 None gnomAD-3.1.2 1.31E-05
30039 10 M/V 12 rs778266858 0.2992 None gnomAD-4.0.0 4.95718E-06
30040 11 K/E 13 rs1322454013 0.4326 None gnomAD-2.1.1 1.21E-05
30040 11 K/E 13 rs1322454013 0.4326 None gnomAD-4.0.0 1.16311E-05
30040 11 K/N 13 None 0.4326 None gnomAD-4.0.0 1.59111E-06
30041 12 D/G 14 None 0.4489 None gnomAD-4.0.0 8.89428E-06
30041 12 D/N 14 rs1272355523 0.4489 None gnomAD-2.1.1 4.02E-06
30041 12 D/N 14 rs1272355523 0.4489 None gnomAD-4.0.0 1.36836E-06
30041 12 D/Y 14 rs1272355523 0.4489 None gnomAD-2.1.1 4.02E-06
30041 12 D/Y 14 rs1272355523 0.4489 None gnomAD-3.1.2 6.57E-06
30041 12 D/Y 14 rs1272355523 0.4489 None gnomAD-4.0.0 3.71795E-06
30043 14 T/A 16 rs757241713 0.3159 None gnomAD-2.1.1 8.03E-06
30043 14 T/A 16 rs757241713 0.3159 None gnomAD-4.0.0 1.36834E-06
30043 14 T/I 16 None 0.3159 None gnomAD-4.0.0 1.20032E-06
30043 14 T/S 16 None 0.3159 None gnomAD-4.0.0 2.05251E-06
30044 15 K/E 17 rs566245349 0.5064 None gnomAD-2.1.1 4.02E-06
30044 15 K/E 17 rs566245349 0.5064 None gnomAD-3.1.2 6.57E-06
30044 15 K/E 17 rs566245349 0.5064 None 1000 genomes 1.99681E-04
30044 15 K/E 17 rs566245349 0.5064 None gnomAD-4.0.0 6.56625E-06
30045 16 T/A 18 None 0.4673 None gnomAD-4.0.0 1.20032E-06
30045 16 T/I 18 rs763963229 0.4673 None gnomAD-2.1.1 3.57E-05
30045 16 T/I 18 rs763963229 0.4673 None gnomAD-3.1.2 1.31E-05
30045 16 T/I 18 rs763963229 0.4673 None gnomAD-4.0.0 1.3632E-05
30046 17 S/C 19 rs1400410632 0.1327 None gnomAD-2.1.1 4.02E-06
30046 17 S/C 19 rs1400410632 0.1327 None gnomAD-4.0.0 6.84174E-07
30046 17 S/Y 19 None 0.1327 None gnomAD-4.0.0 6.84174E-07
30048 19 I/T 21 rs760605469 0.1988 None gnomAD-2.1.1 4.02E-06
30048 19 I/T 21 rs760605469 0.1988 None gnomAD-3.1.2 6.57E-06
30048 19 I/T 21 rs760605469 0.1988 None gnomAD-4.0.0 1.85892E-06
30050 21 S/T 23 rs752534032 0.1583 None gnomAD-2.1.1 1.2E-05
30050 21 S/T 23 rs752534032 0.1583 None gnomAD-4.0.0 4.10501E-06
30052 23 T/N 25 None 0.3425 None gnomAD-4.0.0 4.80129E-06
30053 24 K/N 26 rs886039117 0.6953 None gnomAD-3.1.2 6.57E-06
30053 24 K/N 26 rs886039117 0.6953 None gnomAD-4.0.0 2.56176E-06
30054 25 P/L 27 rs767891763 0.1412 None gnomAD-2.1.1 4.02E-06
30054 25 P/L 27 rs767891763 0.1412 None gnomAD-3.1.2 6.57E-06
30054 25 P/L 27 rs767891763 0.1412 None gnomAD-4.0.0 1.9209E-05
30054 25 P/R 27 None 0.1412 None gnomAD-4.0.0 6.84169E-07
30055 26 D/N 28 rs878879065 0.7546 None gnomAD-3.1.2 6.57E-06
30055 26 D/N 28 rs878879065 0.7546 None gnomAD-4.0.0 6.57047E-06
30055 26 D/V 28 rs759806991 0.7546 None gnomAD-2.1.1 4.02E-06
30055 26 D/V 28 rs759806991 0.7546 None gnomAD-4.0.0 4.78917E-06
30055 26 D/Y 28 None 0.7546 None gnomAD-4.0.0 1.59106E-06
30057 28 D/H 30 None 0.2765 None gnomAD-4.0.0 1.20032E-06
30058 29 G/D 31 rs1699916895 0.1911 None gnomAD-4.0.0 1.59103E-06
30060 31 S/C 33 None 0.2061 None gnomAD-4.0.0 1.59102E-06
30061 32 V/I 34 rs138958733 0.8220 None gnomAD-2.1.1 4.99E-05
30061 32 V/I 34 rs138958733 0.8220 None gnomAD-3.1.2 1.11713E-04
30061 32 V/I 34 rs138958733 0.8220 None 1000 genomes 1.99681E-04
30061 32 V/I 34 rs138958733 0.8220 None gnomAD-4.0.0 2.66433E-05
30062 33 I/F 35 rs931535269 0.1710 None gnomAD-2.1.1 1.07E-05
30062 33 I/F 35 rs931535269 0.1710 None gnomAD-3.1.2 5.91E-05
30062 33 I/F 35 rs931535269 0.1710 None gnomAD-4.0.0 1.28084E-05
30062 33 I/T 35 rs773537655 0.1710 None gnomAD-2.1.1 7.13E-06
30062 33 I/T 35 rs773537655 0.1710 None gnomAD-3.1.2 1.31E-05
30062 33 I/T 35 rs773537655 0.1710 None gnomAD-4.0.0 3.09824E-06
30062 33 I/V 35 rs931535269 0.1710 None gnomAD-3.1.2 6.57E-06
30062 33 I/V 35 rs931535269 0.1710 None gnomAD-4.0.0 6.56944E-06
30063 34 T/I 36 rs770325813 0.3949 None gnomAD-2.1.1 4.02E-06
30063 34 T/I 36 rs770325813 0.3949 None gnomAD-3.1.2 1.31E-05
30063 34 T/I 36 rs770325813 0.3949 None gnomAD-4.0.0 2.47875E-06
30063 34 T/K 36 None 0.3949 None gnomAD-4.0.0 6.84199E-07
30064 35 E/Q 37 rs866186866 0.2641 None gnomAD-2.1.1 4.02E-06
30064 35 E/Q 37 rs866186866 0.2641 None gnomAD-4.0.0 1.59103E-06
30065 36 Y/C 38 None 0.1067 None gnomAD-4.0.0 1.59104E-06
30066 37 V/A 39 rs1011515969 0.2151 None gnomAD-2.1.1 4.02E-06
30066 37 V/A 39 rs1011515969 0.2151 None gnomAD-4.0.0 3.42086E-06
30066 37 V/I 39 rs1166369536 0.2151 None gnomAD-3.1.2 6.57E-06
30066 37 V/I 39 rs1166369536 0.2151 None gnomAD-4.0.0 6.57065E-06
30067 38 V/I 40 rs747129423 0.1003 None gnomAD-2.1.1 4.02E-06
30067 38 V/I 40 rs747129423 0.1003 None gnomAD-4.0.0 1.59104E-06
30068 39 E/A 41 rs1281127111 0.1650 None gnomAD-2.1.1 4.02E-06
30068 39 E/A 41 rs1281127111 0.1650 None gnomAD-4.0.0 1.59106E-06
30068 39 E/G 41 rs1281127111 0.1650 None gnomAD-2.1.1 4.02E-06
30068 39 E/G 41 rs1281127111 0.1650 None gnomAD-4.0.0 1.59106E-06
30069 40 R/S 42 rs207462678 0.3646 None gnomAD-2.1.1 3.18E-05
30069 40 R/S 42 rs207462678 0.3646 None gnomAD-3.1.2 1.31E-05
30069 40 R/S 42 rs207462678 0.3646 None gnomAD-4.0.0 3.09824E-06
30070 41 K/R 43 rs781508633 0.1641 None gnomAD-2.1.1 1.61E-05
30070 41 K/R 43 rs781508633 0.1641 None gnomAD-4.0.0 2.73667E-06
30071 42 G/C 44 None 0.2066 None gnomAD-4.0.0 1.59106E-06
30071 42 G/D 44 rs146338537 0.2066 None gnomAD-2.1.1 8.03E-06
30071 42 G/D 44 rs146338537 0.2066 None gnomAD-3.1.2 6.57E-06
30071 42 G/D 44 rs146338537 0.2066 None 1000 genomes 1.99681E-04
30071 42 G/D 44 rs146338537 0.2066 None gnomAD-4.0.0 2.5614E-06
30072 43 K/R 50 None 0.9536 None gnomAD-4.0.0 1.59105E-06
30075 46 Q/L 63 rs1439429977 0.8950 None gnomAD-2.1.1 4.02E-06
30075 46 Q/L 63 rs1439429977 0.8950 None gnomAD-4.0.0 4.77315E-06
30076 47 T/M 64 rs201998913 0.7774 None gnomAD-2.1.1 3.57E-05
30076 47 T/M 64 rs201998913 0.7774 None gnomAD-3.1.2 1.1171E-04
30076 47 T/M 64 rs201998913 0.7774 None gnomAD-4.0.0 3.34613E-05
30080 51 A/T 68 rs753375022 0.2331 None gnomAD-2.1.1 1.07E-05
30080 51 A/T 68 rs753375022 0.2331 None gnomAD-3.1.2 1.97E-05
30080 51 A/T 68 rs753375022 0.2331 None gnomAD-4.0.0 1.79684E-05
30081 52 G/C 69 None 0.1812 None gnomAD-4.0.0 1.59104E-06
30082 53 I/M 70 rs886038812 0.4470 None gnomAD-2.1.1 3.18E-05
30082 53 I/M 70 rs886038812 0.4470 None gnomAD-3.1.2 1.31E-05
30082 53 I/M 70 rs886038812 0.4470 None gnomAD-4.0.0 3.09814E-06
30082 53 I/V 70 rs777636306 0.4470 None gnomAD-2.1.1 4.02E-06
30082 53 I/V 70 rs777636306 0.4470 None gnomAD-4.0.0 6.84162E-06
30083 54 S/C 77 None 0.1225 None gnomAD-4.0.0 1.20032E-06
30084 55 K/E 83 rs376597164 0.8725 None gnomAD-2.1.1 2.01E-05
30084 55 K/E 83 rs376597164 0.8725 None gnomAD-3.1.2 6.57E-06
30084 55 K/E 83 rs376597164 0.8725 None gnomAD-4.0.0 3.71754E-06
30084 55 K/Q 83 rs376597164 0.8725 None gnomAD-2.1.1 7.14E-06
30084 55 K/Q 83 rs376597164 0.8725 None gnomAD-3.1.2 1.31E-05
30084 55 K/Q 83 rs376597164 0.8725 None gnomAD-4.0.0 2.23069E-05
30084 55 K/T 83 rs752585224 0.8725 None gnomAD-2.1.1 4.02E-06
30086 57 C/R 89 rs372568082 0.1177 None gnomAD-2.1.1 2.14E-05
30086 57 C/R 89 rs372568082 0.1177 None gnomAD-3.1.2 2.63E-05
30086 57 C/R 89 rs372568082 0.1177 None gnomAD-4.0.0 8.96638E-06
30086 57 C/S 89 rs372568082 0.1177 None gnomAD-2.1.1 4.02E-06
30086 57 C/S 89 rs372568082 0.1177 None gnomAD-4.0.0 4.7731E-06
30086 57 C/Y 89 rs1699883953 0.1177 None gnomAD-4.0.0 2.05249E-06
30088 59 I/M 91 rs1238844529 0.1523 None gnomAD-3.1.2 6.57E-06
30088 59 I/M 91 rs1238844529 0.1523 None gnomAD-4.0.0 6.57212E-06
30088 59 I/T 91 None 0.1523 None gnomAD-4.0.0 3.60097E-06
30089 60 E/D 92 rs1290870091 0.4361 None gnomAD-3.1.2 1.31E-05
30089 60 E/D 92 rs1290870091 0.4361 None gnomAD-4.0.0 1.59104E-06
30089 60 E/K 92 rs377281790 0.4361 None gnomAD-4.0.0 3.42083E-06
30089 60 E/Q 92 None 0.4361 None gnomAD-4.0.0 6.84167E-07
30090 61 V/I 93 rs759865479 0.1770 None gnomAD-2.1.1 8.04E-06
30090 61 V/I 93 rs759865479 0.1770 None gnomAD-4.0.0 4.7892E-06
30091 62 S/G 94 None 0.3934 None gnomAD-4.0.0 3.1821E-06
30091 62 S/R 94 rs1460814289 0.3934 None gnomAD-2.1.1 4.02E-06
30091 62 S/R 94 rs1460814289 0.3934 None gnomAD-4.0.0 4.77324E-06
30093 64 L/F 97 None 0.1657 None gnomAD-4.0.0 1.20032E-06
30094 65 K/T 98 None 0.7931 None gnomAD-4.0.0 1.20032E-06
30095 66 E/G 99 rs766497887 0.3827 None gnomAD-2.1.1 4.02E-06
30095 66 E/G 99 rs766497887 0.3827 None gnomAD-3.1.2 6.57E-06
30095 66 E/G 99 rs766497887 0.3827 None gnomAD-4.0.0 5.12357E-06
30096 67 Q/E 100 None 0.5489 None gnomAD-4.0.0 1.59106E-06
30096 67 Q/L 100 rs773339782 0.5489 None gnomAD-3.1.2 6.57E-06
30096 67 Q/L 100 rs773339782 0.5489 None gnomAD-4.0.0 1.85894E-06
30096 67 Q/P 100 None 0.5489 None gnomAD-2.1.1 4.02E-06
30096 67 Q/R 100 rs773339782 0.5489 None gnomAD-2.1.1 8.04E-06
30096 67 Q/R 100 rs773339782 0.5489 None gnomAD-4.0.0 7.52593E-06
30098 69 V/F 103 rs1221691128 0.3603 None gnomAD-2.1.1 6.37E-05
30098 69 V/F 103 rs1221691128 0.3603 None gnomAD-3.1.2 1.31E-05
30098 69 V/F 103 rs1221691128 0.3603 None gnomAD-4.0.0 8.67536E-06
30098 69 V/I 103 None 0.3603 None gnomAD-4.0.0 2.05254E-06
30100 71 E/K 105 rs762287310 0.3001 None gnomAD-2.1.1 4.02E-06
30100 71 E/K 105 rs762287310 0.3001 None gnomAD-3.1.2 6.57E-06
30100 71 E/K 105 rs762287310 0.3001 None gnomAD-4.0.0 6.57229E-06
30100 71 E/Q 105 rs762287310 0.3001 None gnomAD-4.0.0 1.36837E-06
30101 72 F/L 106 rs777004601 0.1217 None gnomAD-2.1.1 4.02E-06
30101 72 F/L 106 rs777004601 0.1217 None gnomAD-4.0.0 1.59116E-06
30101 72 F/V 106 None 0.1217 None gnomAD-4.0.0 1.59116E-06
30105 76 A/T 110 rs1699867864 0.0866 None gnomAD-3.1.2 6.57E-06
30105 76 A/T 110 rs1699867864 0.0866 None gnomAD-4.0.0 1.85905E-06
30106 77 K/E 111 None 0.3306 None gnomAD-4.0.0 1.59127E-06
30110 81 G/E 115 None 0.2203 None gnomAD-4.0.0 1.59133E-06
30111 82 L/P 117 rs368516973 0.4050 None gnomAD-2.1.1 3.21E-05
30111 82 L/P 117 rs368516973 0.4050 None gnomAD-3.1.2 1.97E-05
30111 82 L/P 117 rs368516973 0.4050 None gnomAD-4.0.0 5.57713E-05
30113 84 D/G 119 rs1699857670 0.7781 None gnomAD-3.1.2 6.57E-06
30113 84 D/G 119 rs1699857670 0.7781 None gnomAD-4.0.0 6.57246E-06
30113 84 D/N 119 rs1186226559 0.7781 None gnomAD-3.1.2 6.57E-06
30113 84 D/N 119 rs1186226559 0.7781 None gnomAD-4.0.0 4.05979E-06
30114 85 P/S 120 rs745525849 0.3027 None gnomAD-2.1.1 4.02E-06
30114 85 P/S 120 rs745525849 0.3027 None gnomAD-4.0.0 1.59133E-06
30115 86 V/L 121 rs773932096 0.2621 None gnomAD-2.1.1 4.02E-06
30115 86 V/L 121 rs773932096 0.2621 None gnomAD-4.0.0 1.59131E-06
30116 87 T/I 122 None 0.3485 None gnomAD-4.0.0 1.59132E-06
30117 88 I/T 123 rs1446752513 0.1848 None gnomAD-3.1.2 1.31E-05
30117 88 I/T 123 rs1446752513 0.1848 None gnomAD-4.0.0 4.95759E-06
30117 88 I/V 123 rs1241230315 0.1848 None gnomAD-2.1.1 4.02E-06
30117 88 I/V 123 rs1241230315 0.1848 None gnomAD-3.1.2 6.57E-06
30117 88 I/V 123 rs1241230315 0.1848 None gnomAD-4.0.0 3.84357E-06
30118 89 G/R 125 None 0.4421 None gnomAD-4.0.0 2.73687E-06
30119 90 P/S 126 rs1183493843 0.7172 None gnomAD-2.1.1 4.02E-06
30119 90 P/S 126 rs1183493843 0.7172 None gnomAD-4.0.0 1.59139E-06
30119 90 P/T 126 rs1183493843 0.7172 None gnomAD-2.1.1 4.02E-06
30119 90 P/T 126 rs1183493843 0.7172 None gnomAD-3.1.2 6.57E-06
30119 90 P/T 126 rs1183493843 0.7172 None gnomAD-4.0.0 3.84373E-06
30120 91 I/N 127 rs748786455 0.1792 None gnomAD-2.1.1 2.41E-05
30120 91 I/N 127 rs748786455 0.1792 None gnomAD-3.1.2 1.97E-05
30120 91 I/N 127 rs748786455 0.1792 None gnomAD-4.0.0 2.35497E-05
30120 91 I/T 127 rs748786455 0.1792 None gnomAD-2.1.1 8.05E-06
30120 91 I/T 127 rs748786455 0.1792 None gnomAD-4.0.0 2.05271E-06
30121 92 T/A 128 rs1028805894 0.3680 None gnomAD-3.1.2 1.31E-05
30121 92 T/A 128 rs1028805894 0.3680 None gnomAD-4.0.0 4.33788E-06
30123 94 K/E 131 rs777314679 0.5789 None gnomAD-2.1.1 4.02E-06
30123 94 K/E 131 rs777314679 0.5789 None gnomAD-4.0.0 1.36848E-06
30124 95 E/V 132 None 0.5830 None gnomAD-4.0.0 1.5914E-06