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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9989 1 P/T 1 rs1553877891 0.7682 None gnomAD-4.0.0 8.21707E-06
9990 2 A/V 2 rs1447594243 0.2236 None gnomAD-2.1.1 4.02E-06
9990 2 A/V 2 rs1447594243 0.2236 None gnomAD-3.1.2 6.57E-06
9990 2 A/V 2 rs1447594243 0.2236 None gnomAD-4.0.0 6.56909E-06
9992 4 E/D 4 None 0.3198 None gnomAD-4.0.0 3.18488E-06
9992 4 E/K 4 None 0.3198 None gnomAD-4.0.0 1.36908E-06
9993 5 R/G 5 None 0.5859 None gnomAD-4.0.0 6.8446E-07
9993 5 R/Q 5 rs575360239 0.5859 None gnomAD-2.1.1 4.02E-06
9993 5 R/Q 5 rs575360239 0.5859 None gnomAD-4.0.0 3.0992E-06
9993 5 R/W 5 rs375415014 0.5859 None gnomAD-2.1.1 1.43E-05
9993 5 R/W 5 rs375415014 0.5859 None gnomAD-3.1.2 3.94E-05
9993 5 R/W 5 rs375415014 0.5859 None gnomAD-4.0.0 2.29357E-05
9994 6 H/R 7 None 0.6228 None gnomAD-4.0.0 1.59216E-06
9995 7 L/P 8 rs1060500554 0.1580 None gnomAD-2.1.1 3.18E-05
9995 7 L/P 8 rs1060500554 0.1580 None gnomAD-3.1.2 6.57E-06
9995 7 L/P 8 rs1060500554 0.1580 None gnomAD-4.0.0 6.40658E-06
9996 8 Q/P 9 None 0.7085 None gnomAD-4.0.0 6.84327E-07
9996 8 Q/R 9 None 0.7085 None gnomAD-4.0.0 6.84327E-07
9997 9 D/N 11 rs1287288966 0.6341 None gnomAD-2.1.1 4.02E-06
9997 9 D/N 11 rs1287288966 0.6341 None gnomAD-3.1.2 6.57E-06
9997 9 D/N 11 rs1287288966 0.6341 None gnomAD-4.0.0 3.8442E-06
9997 9 D/V 11 rs1211337787 0.6341 None gnomAD-2.1.1 4.01E-06
9998 10 V/M 13 rs1359452427 0.2742 None gnomAD-2.1.1 4.01E-06
9999 11 T/A 14 rs776483588 0.4437 None gnomAD-2.1.1 4.01E-06
9999 11 T/A 14 rs776483588 0.4437 None gnomAD-3.1.2 1.31E-05
9999 11 T/A 14 rs776483588 0.4437 None gnomAD-4.0.0 3.84321E-06
10000 12 L/P 16 rs768379279 0.2343 None gnomAD-2.1.1 2.41E-05
10000 12 L/P 16 rs768379279 0.2343 None gnomAD-3.1.2 6.57E-06
10000 12 L/P 16 rs768379279 0.2343 None gnomAD-4.0.0 9.29481E-06
10001 13 K/N 18 rs747230082 0.6303 None gnomAD-2.1.1 8.03E-06
10001 13 K/N 18 rs747230082 0.6303 None gnomAD-4.0.0 3.18227E-06
10001 13 K/R 18 None 0.6303 None gnomAD-4.0.0 4.80129E-06
10005 17 T/I 26 rs2075505818 0.4160 None gnomAD-4.0.0 1.59101E-06
10007 19 T/N 29 rs1168557032 0.4075 None gnomAD-4.0.0 2.40064E-06
10008 20 M/R 30 None 0.1286 None gnomAD-4.0.0 4.80129E-06
10008 20 M/T 30 None 0.1286 None gnomAD-4.0.0 1.20032E-06
10008 20 M/V 30 rs1553877757 0.1286 None gnomAD-3.1.2 6.57E-06
10008 20 M/V 30 rs1553877757 0.1286 None gnomAD-4.0.0 3.04463E-06
10009 21 T/I 31 None 0.3107 None gnomAD-4.0.0 1.59086E-06
10010 22 C/G 33 None 0.0924 None gnomAD-4.0.0 1.59085E-06
10012 24 F/V 35 None 0.1400 None gnomAD-4.0.0 1.36827E-06
10013 25 S/F 38 None 0.2227 None gnomAD-4.0.0 1.20032E-06
10013 25 S/P 38 None 0.2227 None gnomAD-4.0.0 1.59086E-06
10014 26 V/L 41 rs745949099 0.2899 None gnomAD-2.1.1 4.01E-06
10014 26 V/L 41 rs745949099 0.2899 None gnomAD-3.1.2 6.57E-06
10014 26 V/L 41 rs745949099 0.2899 None gnomAD-4.0.0 3.84235E-06
10015 27 P/L 42 rs1178694077 0.3429 None gnomAD-2.1.1 3.18E-05
10015 27 P/L 42 rs1178694077 0.3429 None gnomAD-3.1.2 1.31E-05
10015 27 P/L 42 rs1178694077 0.3429 None gnomAD-4.0.0 4.05983E-06
10015 27 P/S 42 rs779333871 0.3429 None gnomAD-2.1.1 4.01E-06
10015 27 P/S 42 rs779333871 0.3429 None gnomAD-4.0.0 7.95434E-06
10017 29 V/L 44 None 0.1785 None gnomAD-4.0.0 1.20032E-06
10018 30 K/I 45 None 0.9470 None gnomAD-4.0.0 1.20032E-06
10019 31 S/A 46 rs754368714 0.2013 None gnomAD-2.1.1 1.78E-05
10019 31 S/A 46 rs754368714 0.2013 None gnomAD-3.1.2 1.31E-05
10019 31 S/A 46 rs754368714 0.2013 None gnomAD-4.0.0 2.10681E-05
10019 31 S/C 46 None 0.2013 None gnomAD-4.0.0 1.20032E-06
10019 31 S/P 46 rs754368714 0.2013 None gnomAD-2.1.1 4.01E-06
10019 31 S/P 46 rs754368714 0.2013 None gnomAD-4.0.0 6.84135E-07
10020 32 E/D 47 rs764487564 0.5013 None gnomAD-2.1.1 4.01E-06
10020 32 E/D 47 rs764487564 0.5013 None gnomAD-4.0.0 6.84135E-07
10021 33 W/R 48 None 0.1570 None gnomAD-4.0.0 1.59086E-06
10023 35 R/G 50 None 0.1664 None gnomAD-4.0.0 1.36827E-06
10023 35 R/S 50 None 0.1664 None gnomAD-4.0.0 1.20032E-06
10025 37 G/S 52 None 0.4841 None gnomAD-4.0.0 2.40064E-06
10025 37 G/V 52 None 0.4841 None gnomAD-4.0.0 1.20032E-06
10026 38 R/T 55 rs1327825232 0.7927 None gnomAD-4.0.0 6.15722E-06
10027 39 I/L 56 None 0.4652 None gnomAD-4.0.0 1.59086E-06
10027 39 I/T 56 rs751219454 0.4652 None gnomAD-2.1.1 4.01E-06
10027 39 I/T 56 rs751219454 0.4652 None gnomAD-4.0.0 1.59087E-06
10029 41 K/Q 59 None 0.8590 None gnomAD-4.0.0 1.36827E-06
10030 42 P/S 70 rs368531555 0.4268 None gnomAD-2.1.1 1.6E-05
10030 42 P/S 70 rs368531555 0.4268 None gnomAD-3.1.2 3.29E-05
10030 42 P/S 70 rs368531555 0.4268 None gnomAD-4.0.0 3.90372E-05
10030 42 P/T 70 rs368531555 0.4268 None gnomAD-4.0.0 6.84134E-07
10032 44 G/D 111 None 0.6382 None gnomAD-4.0.0 1.20032E-06
10032 44 G/R 111 rs1336921459 0.6382 None gnomAD-4.0.0 1.20032E-06
10034 46 H/D 121 None 0.2770 None gnomAD-4.0.0 3.60097E-06
10038 50 V/E 127 rs1490418231 0.3627 None gnomAD-2.1.1 8.02E-06
10038 50 V/L 127 None 0.3627 None gnomAD-4.0.0 1.59088E-06
10039 51 E/K 130 None 0.8351 None gnomAD-4.0.0 1.36828E-06
10040 52 H/Y 131 None 0.6234 None gnomAD-4.0.0 3.60097E-06
10041 53 K/E 134 None 0.1831 None gnomAD-4.0.0 1.59087E-06
10041 53 K/T 134 None 0.1831 None gnomAD-4.0.0 1.20032E-06
10042 54 V/F 135 None 0.2922 None gnomAD-4.0.0 6.84139E-07
10042 54 V/L 135 None 0.2922 None gnomAD-4.0.0 6.84139E-07
10043 55 H/R 136 None 0.1292 None gnomAD-4.0.0 4.77262E-06
10043 55 H/Y 136 rs989692401 0.1292 None gnomAD-2.1.1 4.01E-06
10043 55 H/Y 136 rs989692401 0.1292 None gnomAD-4.0.0 1.59089E-06
10045 57 L/W 138 rs776484795 0.0886 None gnomAD-3.1.2 6.57E-06
10045 57 L/W 138 rs776484795 0.0886 None gnomAD-4.0.0 3.04479E-06
10046 58 T/A 139 rs768446273 0.2149 None gnomAD-2.1.1 4.01E-06
10046 58 T/I 139 rs535268419 0.2149 None gnomAD-2.1.1 2.81E-05
10046 58 T/I 139 rs535268419 0.2149 None gnomAD-3.1.2 6.57E-06
10046 58 T/I 139 rs535268419 0.2149 None 1000 genomes 1.99681E-04
10046 58 T/I 139 rs535268419 0.2149 None gnomAD-4.0.0 9.29383E-06
10047 59 I/T 140 rs1468010768 0.0938 None gnomAD-4.0.0 7.20193E-06
10048 60 A/T 141 None 0.3055 None gnomAD-4.0.0 1.20032E-06
10049 61 D/G 143 rs2075487390 0.3489 None gnomAD-4.0.0 2.05243E-06
10051 63 R/P 145 rs772291213 0.3016 None gnomAD-2.1.1 8.02E-06
10051 63 R/P 145 rs772291213 0.3016 None gnomAD-4.0.0 1.3683E-06
10051 63 R/Q 145 None 0.3016 None gnomAD-2.1.1 1.6E-05
10051 63 R/Q 145 None 0.3016 None gnomAD-3.1.2 1.31E-05
10051 63 R/Q 145 None 0.3016 None gnomAD-4.0.0 9.29475E-06
10052 64 A/G 146 None 0.4473 None gnomAD-4.0.0 1.20032E-06
10052 64 A/T 146 rs746145079 0.4473 None gnomAD-2.1.1 8.02E-06
10052 64 A/T 146 rs746145079 0.4473 None gnomAD-4.0.0 4.10488E-06
10055 67 Q/H 151 rs1560511850 0.4561 None gnomAD-2.1.1 4.01E-06
10055 67 Q/H 151 rs1560511850 0.4561 None gnomAD-4.0.0 1.59092E-06
10056 68 G/C 152 rs794729401 0.1760 None gnomAD-4.0.0 3.18184E-06
10056 68 G/S 152 None 0.1760 None gnomAD-2.1.1 4.01E-06
10056 68 G/S 152 None 0.1760 None gnomAD-4.0.0 1.59092E-06
10057 69 Q/P 153 None 0.4967 None gnomAD-4.0.0 4.10489E-06
10057 69 Q/R 153 rs2075483683 0.4967 None gnomAD-4.0.0 6.84148E-07
10061 73 K/E 157 rs184153985 0.2676 None gnomAD-4.0.0 1.36831E-06
10061 73 K/I 157 None 0.2676 None gnomAD-4.0.0 1.20032E-06
10061 73 K/Q 157 rs184153985 0.2676 None gnomAD-2.1.1 1.49662E-04
10061 73 K/Q 157 rs184153985 0.2676 None gnomAD-3.1.2 4.59831E-04
10061 73 K/Q 157 rs184153985 0.2676 None 1000 genomes 5.99042E-04
10061 73 K/Q 157 rs184153985 0.2676 None gnomAD-4.0.0 7.43492E-05
10062 74 Y/F 158 rs2075481776 0.2128 None gnomAD-3.1.2 6.57E-06
10062 74 Y/F 158 rs2075481776 0.2128 None gnomAD-4.0.0 6.56883E-06
10062 74 Y/H 158 None 0.2128 None gnomAD-4.0.0 1.20032E-06
10064 76 D/Y 161 None 1.0413 None gnomAD-4.0.0 1.36833E-06
10066 78 E/Q 168 rs370072382 0.5722 None gnomAD-2.1.1 1.61E-05
10066 78 E/Q 168 rs370072382 0.5722 None gnomAD-3.1.2 6.57E-06
10066 78 E/Q 168 rs370072382 0.5722 None gnomAD-4.0.0 6.94E-05
10068 80 S/L 171 rs756434866 0.3249 None gnomAD-2.1.1 4.01E-06
10068 80 S/L 171 rs756434866 0.3249 None gnomAD-4.0.0 4.77351E-06
10068 80 S/T 171 rs1410740071 0.3249 None gnomAD-2.1.1 4.01E-06
10068 80 S/T 171 rs1410740071 0.3249 None gnomAD-4.0.0 5.47342E-06
10069 81 A/E 172 None 0.1235 None gnomAD-4.0.0 2.40064E-06
10069 81 A/T 172 rs1167245039 0.1235 None gnomAD-3.1.2 1.31E-05
10069 81 A/T 172 rs1167245039 0.1235 None gnomAD-4.0.0 1.31404E-05
10070 82 E/D 173 None 0.3635 None gnomAD-4.0.0 6.84234E-07
10071 83 L/R 174 rs879001616 0.1215 None gnomAD-4.0.0 3.18278E-06
10073 85 I/V 176 None 0.2036 None gnomAD-4.0.0 1.59158E-06
10074 86 E/A 178 rs1441211227 0.6507 None gnomAD-2.1.1 4.02E-06
10074 86 E/A 178 rs1441211227 0.6507 None gnomAD-4.0.0 3.18376E-06
10074 86 E/D 178 None 0.6507 None gnomAD-4.0.0 1.20032E-06
10074 86 E/K 178 rs794729402 0.6507 None gnomAD-2.1.1 7.14E-06
10074 86 E/K 178 rs794729402 0.6507 None gnomAD-3.1.2 1.31E-05
10074 86 E/K 178 rs794729402 0.6507 None gnomAD-4.0.0 1.36355E-05