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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
10079 2 Q/R 2 rs752672136 0.7741 None gnomAD-2.1.1 4.02E-06
10079 2 Q/R 2 rs752672136 0.7741 None gnomAD-4.0.0 1.59282E-06
10081 4 T/R 4 rs1306890743 0.4053 None gnomAD-3.1.2 6.57E-06
10081 4 T/R 4 rs1306890743 0.4053 None gnomAD-4.0.0 2.02986E-06
10082 5 K/T 5 rs2075208868 0.3421 None gnomAD-3.1.2 6.57E-06
10082 5 K/T 5 rs2075208868 0.3421 None gnomAD-4.0.0 6.57004E-06
10083 6 R/C 7 rs377714947 0.4633 None gnomAD-2.1.1 2.86E-05
10083 6 R/C 7 rs377714947 0.4633 None gnomAD-3.1.2 2.63E-05
10083 6 R/C 7 rs377714947 0.4633 None 1000 genomes 1.99681E-04
10083 6 R/C 7 rs377714947 0.4633 None gnomAD-4.0.0 1.36336E-05
10083 6 R/H 7 rs759347532 0.4633 None gnomAD-2.1.1 7.14E-06
10083 6 R/H 7 rs759347532 0.4633 None gnomAD-3.1.2 1.97E-05
10083 6 R/H 7 rs759347532 0.4633 None gnomAD-4.0.0 2.41697E-05
10083 6 R/L 7 rs759347532 0.4633 None gnomAD-2.1.1 4.02E-06
10083 6 R/L 7 rs759347532 0.4633 None gnomAD-4.0.0 1.36852E-06
10084 7 I/M 8 None 0.1207 None gnomAD-4.0.0 1.20032E-06
10084 7 I/V 8 None 0.1207 None gnomAD-4.0.0 3.42109E-06
10085 8 Q/E 9 rs1057519237 0.7608 None gnomAD-2.1.1 4.02E-06
10085 8 Q/E 9 rs1057519237 0.7608 None gnomAD-4.0.0 1.59124E-06
10085 8 Q/H 9 rs1207728802 0.7608 None gnomAD-2.1.1 3.19E-05
10085 8 Q/H 9 rs1207728802 0.7608 None gnomAD-3.1.2 6.57E-06
10085 8 Q/H 9 rs1207728802 0.7608 None gnomAD-4.0.0 2.47864E-06
10086 9 N/D 11 rs1188623443 0.3838 None gnomAD-2.1.1 4.01E-06
10086 9 N/D 11 rs1188623443 0.3838 None gnomAD-4.0.0 1.59091E-06
10086 9 N/K 11 rs2075205547 0.3838 None gnomAD-4.0.0 1.59088E-06
10088 11 V/A 14 None 0.5109 None gnomAD-4.0.0 6.84142E-06
10088 11 V/M 14 rs771073631 0.5109 None gnomAD-2.1.1 8.03E-06
10088 11 V/M 14 rs771073631 0.5109 None gnomAD-3.1.2 6.57E-06
10088 11 V/M 14 rs771073631 0.5109 None gnomAD-4.0.0 1.11538E-05
10090 13 S/N 18 rs2075204317 0.3449 None gnomAD-3.1.2 6.57E-06
10090 13 S/N 18 rs2075204317 0.3449 None gnomAD-4.0.0 7.68494E-06
10091 14 E/D 23 rs2075203632 0.4335 None gnomAD-3.1.2 6.57E-06
10091 14 E/D 23 rs2075203632 0.4335 None gnomAD-4.0.0 3.84252E-06
10091 14 E/G 23 None 0.4335 None gnomAD-4.0.0 1.20032E-06
10091 14 E/K 23 rs2075203983 0.4335 None gnomAD-4.0.0 1.20032E-06
10092 15 H/L 24 None 0.5699 None gnomAD-4.0.0 1.59086E-06
10092 15 H/R 24 rs1311702740 0.5699 None gnomAD-4.0.0 3.18172E-06
10092 15 H/Y 24 rs72650011 0.5699 None gnomAD-2.1.1 4.04131E-03
10092 15 H/Y 24 rs72650011 0.5699 None gnomAD-3.1.2 3.6088E-03
10092 15 H/Y 24 rs72650011 0.5699 None 1000 genomes 1.19808E-03
10092 15 H/Y 24 rs72650011 0.5699 ARVC
Literature None
10092 15 H/Y 24 rs72650011 0.5699 None gnomAD-4.0.0 3.48525E-03
10094 17 S/P 26 rs773164933 0.3668 None gnomAD-2.1.1 1.2E-05
10094 17 S/P 26 rs773164933 0.3668 None gnomAD-4.0.0 6.36345E-06
10095 18 A/T 28 rs201635835 0.1478 None gnomAD-2.1.1 6.06E-05
10095 18 A/T 28 rs201635835 0.1478 None gnomAD-3.1.2 4.6E-05
10095 18 A/T 28 rs201635835 0.1478 None gnomAD-4.0.0 8.73615E-05
10097 20 F/S 30 None 0.1176 None gnomAD-4.0.0 3.60097E-06
10099 22 C/R 33 rs2075201214 0.0929 None gnomAD-4.0.0 1.20032E-06
10099 22 C/S 33 None 0.0929 None gnomAD-4.0.0 2.40064E-06
10100 23 E/K 34 rs748645732 0.2004 None gnomAD-2.1.1 4.01E-06
10100 23 E/K 34 rs748645732 0.2004 None gnomAD-4.0.0 1.59086E-06
10101 24 V/L 35 None 0.0985 None gnomAD-4.0.0 6.84133E-07
10101 24 V/M 35 None 0.0985 None gnomAD-4.0.0 6.84133E-07
10103 26 F/L 40 None 0.3202 None gnomAD-4.0.0 6.84132E-07
10106 29 A/S 44 None 0.1622 None gnomAD-4.0.0 1.59086E-06
10107 30 I/T 45 None 0.7387 None gnomAD-4.0.0 1.59085E-06
10109 32 T/A 47 rs2075197256 0.2387 None gnomAD-4.0.0 1.20033E-06
10114 37 P/A 52 None 0.8043 None gnomAD-4.0.0 1.36827E-06
10114 37 P/S 52 None 0.8043 None gnomAD-4.0.0 4.1048E-06
10115 38 T/A 55 rs769099418 0.5358 None gnomAD-2.1.1 1.78E-05
10115 38 T/A 55 rs769099418 0.5358 None gnomAD-3.1.2 1.97E-05
10115 38 T/A 55 rs769099418 0.5358 None gnomAD-4.0.0 1.42514E-05
10115 38 T/K 55 rs747337002 0.5358 None gnomAD-2.1.1 4.01E-06
10118 41 T/K 59 None 0.7575 None gnomAD-4.0.0 1.59085E-06
10119 42 E/Q 70 rs778565859 0.4402 None gnomAD-2.1.1 9.23E-05
10119 42 E/Q 70 rs778565859 0.4402 None gnomAD-4.0.0 1.64192E-05
10120 43 S/G 73 rs1577676588 0.2510 None gnomAD-4.0.0 1.20033E-06
10120 43 S/R 73 rs1292517657 0.2510 None gnomAD-2.1.1 4.01E-06
10120 43 S/R 73 rs1292517657 0.2510 None gnomAD-4.0.0 6.84134E-07
10121 44 Q/E 111 rs1433870889 1.0687 None gnomAD-2.1.1 4.01E-06
10121 44 Q/E 111 rs1433870889 1.0687 None gnomAD-4.0.0 4.77259E-06
10121 44 Q/H 111 rs1366841002 1.0687 None gnomAD-2.1.1 4.01E-06
10121 44 Q/H 111 rs1366841002 1.0687 None gnomAD-4.0.0 1.59086E-06
10123 46 Y/C 121 None 0.1844 None gnomAD-4.0.0 1.59086E-06
10124 47 N/K 122 rs1163704372 0.2803 None gnomAD-2.1.1 4.01E-06
10124 47 N/K 122 rs1163704372 0.2803 None gnomAD-3.1.2 6.57E-06
10124 47 N/K 122 rs1163704372 0.2803 None gnomAD-4.0.0 2.56176E-06
10124 47 N/T 122 None 0.2803 None gnomAD-4.0.0 1.59085E-06
10124 47 N/Y 122 rs2075188829 0.2803 None gnomAD-3.1.2 6.57E-06
10124 47 N/Y 122 rs2075188829 0.2803 None gnomAD-4.0.0 6.57289E-06
10125 48 F/I 123 None 0.2307 None gnomAD-4.0.0 1.59085E-06
10127 50 N/I 127 rs756843499 0.8189 None gnomAD-2.1.1 4.01E-06
10127 50 N/I 127 rs756843499 0.8189 None gnomAD-3.1.2 6.57E-06
10127 50 N/I 127 rs756843499 0.8189 None gnomAD-4.0.0 3.04491E-06
10127 50 N/K 127 rs2075185543 0.8189 None gnomAD-3.1.2 6.57E-06
10127 50 N/K 127 rs2075185543 0.8189 None gnomAD-4.0.0 2.02995E-06
10127 50 N/T 127 None 0.8189 None gnomAD-4.0.0 4.80129E-06
10128 51 D/Y 130 None 0.8316 None gnomAD-4.0.0 1.36826E-06
10130 53 R/H 134 rs373355159 0.3377 None gnomAD-2.1.1 1.99525E-04
10130 53 R/H 134 rs373355159 0.3377 None gnomAD-3.1.2 1.90634E-04
10130 53 R/H 134 rs373355159 0.3377 None gnomAD-4.0.0 3.12305E-04
10131 54 C/W 135 rs913255032 0.1997 None gnomAD-4.0.0 1.59087E-06
10132 55 H/L 136 None 0.1962 None gnomAD-4.0.0 3.42068E-06
10132 55 H/R 136 rs1057518758 0.1962 None gnomAD-2.1.1 3.19E-05
10132 55 H/R 136 rs1057518758 0.1962 None gnomAD-4.0.0 6.84137E-07
10134 57 M/I 138 None 0.0608 None gnomAD-4.0.0 3.18188E-06
10134 57 M/T 138 rs755668668 0.0608 None gnomAD-2.1.1 4.01E-06
10135 58 T/I 139 rs138493804 0.2038 None gnomAD-2.1.1 4.01E-06
10135 58 T/I 139 rs138493804 0.2038 None gnomAD-3.1.2 6.57E-06
10135 58 T/I 139 rs138493804 0.2038 None 1000 genomes 1.99681E-04
10135 58 T/I 139 rs138493804 0.2038 None gnomAD-4.0.0 1.30117E-05
10137 60 H/N 141 rs2075178264 0.4340 None gnomAD-3.1.2 6.57E-06
10137 60 H/N 141 rs2075178264 0.4340 None gnomAD-4.0.0 2.56188E-06
10138 61 N/D 143 None 0.5142 None gnomAD-4.0.0 2.05243E-06
10138 61 N/H 143 rs539637860 0.5142 None gnomAD-2.1.1 4.01E-05
10138 61 N/H 143 rs539637860 0.5142 None gnomAD-3.1.2 4.6E-05
10138 61 N/H 143 rs539637860 0.5142 None 1000 genomes 1.99681E-04
10138 61 N/H 143 rs539637860 0.5142 None gnomAD-4.0.0 2.04471E-05
10138 61 N/S 143 None 0.5142 None gnomAD-4.0.0 1.5909E-06
10141 64 P/A 146 None 0.4971 None gnomAD-4.0.0 1.20032E-06
10142 65 D/N 148 rs1577675584 0.7862 None gnomAD-4.0.0 2.73666E-06
10142 65 D/Y 148 None 0.7862 None gnomAD-4.0.0 2.05249E-06
10143 66 D/A 149 rs766264907 0.1517 None gnomAD-4.0.0 1.11375E-05
10143 66 D/G 149 rs766264907 0.1517 None gnomAD-2.1.1 4.01E-06
10143 66 D/G 149 rs766264907 0.1517 None gnomAD-3.1.2 6.58E-06
10143 66 D/G 149 rs766264907 0.1517 None gnomAD-4.0.0 6.57531E-06
10143 66 D/N 149 rs1553875406 0.1517 None gnomAD-4.0.0 1.20033E-06
10144 67 E/K 151 None 0.3553 None gnomAD-4.0.0 1.20032E-06
10146 69 V/D 153 rs372185371 0.4515 None gnomAD-2.1.1 1.43E-05
10146 69 V/D 153 rs372185371 0.4515 None gnomAD-3.1.2 6.57E-05
10146 69 V/D 153 rs372185371 0.4515 None gnomAD-4.0.0 9.91425E-06
10146 69 V/G 153 rs372185371 0.4515 None gnomAD-3.1.2 6.57E-06
10146 69 V/G 153 rs372185371 0.4515 None gnomAD-4.0.0 6.57272E-06
10146 69 V/I 153 rs1553875094 0.4515 None gnomAD-4.0.0 1.59088E-06
10147 70 Y/H 154 None 0.1086 None gnomAD-4.0.0 1.20032E-06
10148 71 S/L 155 rs766069724 0.2230 None gnomAD-2.1.1 3.21E-05
10148 71 S/L 155 rs766069724 0.2230 None gnomAD-3.1.2 1.31E-05
10148 71 S/L 155 rs766069724 0.2230 None gnomAD-4.0.0 1.4252E-05
10150 73 I/M 157 rs761922521 0.1695 None gnomAD-2.1.1 4.01E-06
10150 73 I/M 157 rs761922521 0.1695 None gnomAD-4.0.0 6.84136E-07
10150 73 I/V 157 None 0.1695 None gnomAD-4.0.0 2.73654E-06
10151 74 A/T 158 rs965765805 0.0937 None gnomAD-3.1.2 1.31E-05
10151 74 A/T 158 rs965765805 0.0937 None gnomAD-4.0.0 4.05992E-06
10152 75 R/L 159 rs375796685 0.3706 None gnomAD-2.1.1 1.6E-05
10152 75 R/L 159 rs375796685 0.3706 None gnomAD-3.1.2 6.57E-06
10152 75 R/L 159 rs375796685 0.3706 None gnomAD-4.0.0 6.19649E-06
10152 75 R/Q 159 rs375796685 0.3706 None gnomAD-2.1.1 2.01E-05
10152 75 R/Q 159 rs375796685 0.3706 None gnomAD-3.1.2 1.31E-05
10152 75 R/Q 159 rs375796685 0.3706 None gnomAD-4.0.0 1.42519E-05
10152 75 R/W 159 rs1005491217 0.3706 None gnomAD-2.1.1 4.01E-06
10152 75 R/W 159 rs1005491217 0.3706 None gnomAD-3.1.2 6.57E-06
10152 75 R/W 159 rs1005491217 0.3706 None gnomAD-4.0.0 9.29483E-06
10154 77 E/G 161 rs761055099 0.9378 None gnomAD-2.1.1 4.01E-06
10154 77 E/G 161 rs761055099 0.9378 None gnomAD-4.0.0 1.59085E-06
10155 78 P/L 162 None 0.8299 None gnomAD-4.0.0 1.59085E-06
10156 79 R/G 163 rs2075131070 0.4411 None gnomAD-3.1.2 6.57E-06
10156 79 R/G 163 rs2075131070 0.4411 None gnomAD-4.0.0 6.57013E-06
10156 79 R/S 163 None 0.4411 None gnomAD-4.0.0 1.59085E-06
10156 79 R/T 163 rs794729403 0.4411 None gnomAD-4.0.0 3.1817E-06
10157 80 G/R 164 None 0.2968 None gnomAD-4.0.0 3.60097E-06
10159 82 A/V 166 rs1468822039 0.1252 None gnomAD-2.1.1 7.13E-06
10159 82 A/V 166 rs1468822039 0.1252 None gnomAD-3.1.2 6.57E-06
10159 82 A/V 166 rs1468822039 0.1252 None gnomAD-4.0.0 2.56175E-06
10160 83 R/K 168 None 0.6374 None gnomAD-4.0.0 1.59085E-06
10160 83 R/S 168 None 0.6374 None gnomAD-4.0.0 1.59085E-06
10162 85 T/M 171 rs200593368 0.5955 None gnomAD-2.1.1 3.95463E-04
10162 85 T/M 171 rs200593368 0.5955 None gnomAD-3.1.2 2.8269E-04
10162 85 T/M 171 rs200593368 0.5955 None 1000 genomes 1.99681E-04
10162 85 T/M 171 rs200593368 0.5955 None gnomAD-4.0.0 5.68179E-04
10162 85 T/R 171 None 0.5955 None gnomAD-4.0.0 6.84135E-07
10164 87 E/D 173 rs1064797276 0.3173 None gnomAD-2.1.1 4.01E-06
10164 87 E/D 173 rs1064797276 0.3173 None gnomAD-3.1.2 6.57E-06
10164 87 E/D 173 rs1064797276 0.3173 None gnomAD-4.0.0 6.84134E-07