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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 A E P 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 T
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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9989 1 P/T 1 rs1553877891 0.4746 None gnomAD-4.0.0 8.21707E-06
9990 2 A/V 2 rs1447594243 0.3773 None gnomAD-2.1.1 4.02E-06
9990 2 A/V 2 rs1447594243 0.3773 None gnomAD-3.1.2 6.57E-06
9990 2 A/V 2 rs1447594243 0.3773 None gnomAD-4.0.0 6.56909E-06
9992 4 E/D 4 None 0.3649 None gnomAD-4.0.0 3.18488E-06
9992 4 E/K 4 None 0.3649 None gnomAD-4.0.0 1.36908E-06
9993 5 R/G 5 None 0.5103 None gnomAD-4.0.0 6.8446E-07
9993 5 R/Q 5 rs575360239 0.5103 None gnomAD-2.1.1 4.02E-06
9993 5 R/Q 5 rs575360239 0.5103 None gnomAD-4.0.0 3.0992E-06
9993 5 R/W 5 rs375415014 0.5103 None gnomAD-2.1.1 1.43E-05
9993 5 R/W 5 rs375415014 0.5103 None gnomAD-3.1.2 3.94E-05
9993 5 R/W 5 rs375415014 0.5103 None gnomAD-4.0.0 2.29357E-05
9994 6 H/R 7 None 0.5213 None gnomAD-4.0.0 1.59216E-06
9995 7 L/P 8 rs1060500554 0.1720 None gnomAD-2.1.1 3.18E-05
9995 7 L/P 8 rs1060500554 0.1720 None gnomAD-3.1.2 6.57E-06
9995 7 L/P 8 rs1060500554 0.1720 None gnomAD-4.0.0 6.40658E-06
9996 8 Q/P 9 None 0.8375 None gnomAD-4.0.0 6.84327E-07
9996 8 Q/R 9 None 0.8375 None gnomAD-4.0.0 6.84327E-07
9997 9 D/N 11 rs1287288966 0.5668 None gnomAD-2.1.1 4.02E-06
9997 9 D/N 11 rs1287288966 0.5668 None gnomAD-3.1.2 6.57E-06
9997 9 D/N 11 rs1287288966 0.5668 None gnomAD-4.0.0 3.8442E-06
9997 9 D/V 11 rs1211337787 0.5668 None gnomAD-2.1.1 4.01E-06
9998 10 V/M 13 rs1359452427 0.2740 None gnomAD-2.1.1 4.01E-06
9999 11 T/A 14 rs776483588 0.4589 None gnomAD-2.1.1 4.01E-06
9999 11 T/A 14 rs776483588 0.4589 None gnomAD-3.1.2 1.31E-05
9999 11 T/A 14 rs776483588 0.4589 None gnomAD-4.0.0 3.84321E-06
10000 12 L/P 16 rs768379279 0.2555 None gnomAD-2.1.1 2.41E-05
10000 12 L/P 16 rs768379279 0.2555 None gnomAD-3.1.2 6.57E-06
10000 12 L/P 16 rs768379279 0.2555 None gnomAD-4.0.0 9.29481E-06
10001 13 K/N 18 rs747230082 0.4751 None gnomAD-2.1.1 8.03E-06
10001 13 K/N 18 rs747230082 0.4751 None gnomAD-4.0.0 3.18227E-06
10001 13 K/R 18 None 0.4751 None gnomAD-4.0.0 4.80129E-06
10005 17 T/I 26 rs2075505818 0.4591 None gnomAD-4.0.0 1.59101E-06
10007 19 T/N 29 rs1168557032 0.3677 None gnomAD-4.0.0 2.40064E-06
10008 20 M/R 30 None 0.1478 None gnomAD-4.0.0 4.80129E-06
10008 20 M/T 30 None 0.1478 None gnomAD-4.0.0 1.20032E-06
10008 20 M/V 30 rs1553877757 0.1478 None gnomAD-3.1.2 6.57E-06
10008 20 M/V 30 rs1553877757 0.1478 None gnomAD-4.0.0 3.04463E-06
10009 21 T/I 31 None 0.4525 None gnomAD-4.0.0 1.59086E-06
10010 22 C/G 33 None 0.0922 None gnomAD-4.0.0 1.59085E-06
10012 24 F/V 35 None 0.0911 None gnomAD-4.0.0 1.36827E-06
10013 25 S/F 38 None 0.2784 None gnomAD-4.0.0 1.20032E-06
10013 25 S/P 38 None 0.2784 None gnomAD-4.0.0 1.59086E-06
10014 26 V/L 41 rs745949099 0.3491 None gnomAD-2.1.1 4.01E-06
10014 26 V/L 41 rs745949099 0.3491 None gnomAD-3.1.2 6.57E-06
10014 26 V/L 41 rs745949099 0.3491 None gnomAD-4.0.0 3.84235E-06
10015 27 P/L 42 rs1178694077 0.3611 None gnomAD-2.1.1 3.18E-05
10015 27 P/L 42 rs1178694077 0.3611 None gnomAD-3.1.2 1.31E-05
10015 27 P/L 42 rs1178694077 0.3611 None gnomAD-4.0.0 4.05983E-06
10015 27 P/S 42 rs779333871 0.3611 None gnomAD-2.1.1 4.01E-06
10015 27 P/S 42 rs779333871 0.3611 None gnomAD-4.0.0 7.95434E-06
10017 29 V/L 44 None 0.1424 None gnomAD-4.0.0 1.20032E-06
10018 30 K/I 45 None 0.9495 None gnomAD-4.0.0 1.20032E-06
10019 31 S/A 46 rs754368714 0.2472 None gnomAD-2.1.1 1.78E-05
10019 31 S/A 46 rs754368714 0.2472 None gnomAD-3.1.2 1.31E-05
10019 31 S/A 46 rs754368714 0.2472 None gnomAD-4.0.0 2.10681E-05
10019 31 S/C 46 None 0.2472 None gnomAD-4.0.0 1.20032E-06
10019 31 S/P 46 rs754368714 0.2472 None gnomAD-2.1.1 4.01E-06
10019 31 S/P 46 rs754368714 0.2472 None gnomAD-4.0.0 6.84135E-07
10020 32 E/D 47 rs764487564 0.4738 None gnomAD-2.1.1 4.01E-06
10020 32 E/D 47 rs764487564 0.4738 None gnomAD-4.0.0 6.84135E-07
10021 33 W/R 48 None 0.1724 None gnomAD-4.0.0 1.59086E-06
10023 35 R/G 50 None 0.1887 None gnomAD-4.0.0 1.36827E-06
10023 35 R/S 50 None 0.1887 None gnomAD-4.0.0 1.20032E-06
10025 37 G/S 52 None 0.4654 None gnomAD-4.0.0 2.40064E-06
10025 37 G/V 52 None 0.4654 None gnomAD-4.0.0 1.20032E-06
10026 38 R/T 55 rs1327825232 0.8336 None gnomAD-4.0.0 6.15722E-06
10027 39 I/L 56 None 0.4965 None gnomAD-4.0.0 1.59086E-06
10027 39 I/T 56 rs751219454 0.4965 None gnomAD-2.1.1 4.01E-06
10027 39 I/T 56 rs751219454 0.4965 None gnomAD-4.0.0 1.59087E-06
10029 41 K/Q 59 None 0.9011 None gnomAD-4.0.0 1.36827E-06
10030 42 P/S 70 rs368531555 0.5511 None gnomAD-2.1.1 1.6E-05
10030 42 P/S 70 rs368531555 0.5511 None gnomAD-3.1.2 3.29E-05
10030 42 P/S 70 rs368531555 0.5511 None gnomAD-4.0.0 3.90372E-05
10030 42 P/T 70 rs368531555 0.5511 None gnomAD-4.0.0 6.84134E-07
10032 44 G/D 111 None 0.5531 None gnomAD-4.0.0 1.20032E-06
10032 44 G/R 111 rs1336921459 0.5531 None gnomAD-4.0.0 1.20032E-06
10034 46 H/D 121 None 0.2541 None gnomAD-4.0.0 3.60097E-06
10038 50 V/E 127 rs1490418231 0.4406 None gnomAD-2.1.1 8.02E-06
10038 50 V/L 127 None 0.4406 None gnomAD-4.0.0 1.59088E-06
10039 51 E/K 130 None 0.7857 None gnomAD-4.0.0 1.36828E-06
10040 52 H/Y 131 None 0.7977 None gnomAD-4.0.0 3.60097E-06
10041 53 K/E 134 None 0.2331 None gnomAD-4.0.0 1.59087E-06
10041 53 K/T 134 None 0.2331 None gnomAD-4.0.0 1.20032E-06
10042 54 V/F 135 None 0.2950 None gnomAD-4.0.0 6.84139E-07
10042 54 V/L 135 None 0.2950 None gnomAD-4.0.0 6.84139E-07
10043 55 H/R 136 None 0.1339 None gnomAD-4.0.0 4.77262E-06
10043 55 H/Y 136 rs989692401 0.1339 None gnomAD-2.1.1 4.01E-06
10043 55 H/Y 136 rs989692401 0.1339 None gnomAD-4.0.0 1.59089E-06
10045 57 L/W 138 rs776484795 0.0931 None gnomAD-3.1.2 6.57E-06
10045 57 L/W 138 rs776484795 0.0931 None gnomAD-4.0.0 3.04479E-06
10046 58 T/A 139 rs768446273 0.2358 None gnomAD-2.1.1 4.01E-06
10046 58 T/I 139 rs535268419 0.2358 None gnomAD-2.1.1 2.81E-05
10046 58 T/I 139 rs535268419 0.2358 None gnomAD-3.1.2 6.57E-06
10046 58 T/I 139 rs535268419 0.2358 None 1000 genomes 1.99681E-04
10046 58 T/I 139 rs535268419 0.2358 None gnomAD-4.0.0 9.29383E-06
10047 59 I/T 140 rs1468010768 0.0982 None gnomAD-4.0.0 7.20193E-06
10048 60 A/T 141 None 0.3015 None gnomAD-4.0.0 1.20032E-06
10049 61 D/G 143 rs2075487390 0.3898 None gnomAD-4.0.0 2.05243E-06
10051 63 R/P 145 rs772291213 0.3954 None gnomAD-2.1.1 8.02E-06
10051 63 R/P 145 rs772291213 0.3954 None gnomAD-4.0.0 1.3683E-06
10051 63 R/Q 145 None 0.3954 None gnomAD-2.1.1 1.6E-05
10051 63 R/Q 145 None 0.3954 None gnomAD-3.1.2 1.31E-05
10051 63 R/Q 145 None 0.3954 None gnomAD-4.0.0 9.29475E-06
10052 64 A/G 146 None 0.4180 None gnomAD-4.0.0 1.20032E-06
10052 64 A/T 146 rs746145079 0.4180 None gnomAD-2.1.1 8.02E-06
10052 64 A/T 146 rs746145079 0.4180 None gnomAD-4.0.0 4.10488E-06
10055 67 Q/H 151 rs1560511850 0.4596 None gnomAD-2.1.1 4.01E-06
10055 67 Q/H 151 rs1560511850 0.4596 None gnomAD-4.0.0 1.59092E-06
10056 68 G/C 152 rs794729401 0.1697 None gnomAD-4.0.0 3.18184E-06
10056 68 G/S 152 None 0.1697 None gnomAD-2.1.1 4.01E-06
10056 68 G/S 152 None 0.1697 None gnomAD-4.0.0 1.59092E-06
10057 69 Q/P 153 None 0.4792 None gnomAD-4.0.0 4.10489E-06
10057 69 Q/R 153 rs2075483683 0.4792 None gnomAD-4.0.0 6.84148E-07
10061 73 K/E 157 rs184153985 0.3659 None gnomAD-4.0.0 1.36831E-06
10061 73 K/I 157 None 0.3659 None gnomAD-4.0.0 1.20032E-06
10061 73 K/Q 157 rs184153985 0.3659 None gnomAD-2.1.1 1.49662E-04
10061 73 K/Q 157 rs184153985 0.3659 None gnomAD-3.1.2 4.59831E-04
10061 73 K/Q 157 rs184153985 0.3659 None 1000 genomes 5.99042E-04
10061 73 K/Q 157 rs184153985 0.3659 None gnomAD-4.0.0 7.43492E-05
10062 74 Y/F 158 rs2075481776 0.2177 None gnomAD-3.1.2 6.57E-06
10062 74 Y/F 158 rs2075481776 0.2177 None gnomAD-4.0.0 6.56883E-06
10062 74 Y/H 158 None 0.2177 None gnomAD-4.0.0 1.20032E-06
10064 76 D/Y 161 None 1.1122 None gnomAD-4.0.0 1.36833E-06
10066 78 E/Q 168 rs370072382 0.6699 None gnomAD-2.1.1 1.61E-05
10066 78 E/Q 168 rs370072382 0.6699 None gnomAD-3.1.2 6.57E-06
10066 78 E/Q 168 rs370072382 0.6699 None gnomAD-4.0.0 6.94E-05
10068 80 S/L 171 rs756434866 0.3300 None gnomAD-2.1.1 4.01E-06
10068 80 S/L 171 rs756434866 0.3300 None gnomAD-4.0.0 4.77351E-06
10068 80 S/T 171 rs1410740071 0.3300 None gnomAD-2.1.1 4.01E-06
10068 80 S/T 171 rs1410740071 0.3300 None gnomAD-4.0.0 5.47342E-06
10069 81 A/E 172 None 0.1425 None gnomAD-4.0.0 2.40064E-06
10069 81 A/T 172 rs1167245039 0.1425 None gnomAD-3.1.2 1.31E-05
10069 81 A/T 172 rs1167245039 0.1425 None gnomAD-4.0.0 1.31404E-05
10070 82 E/D 173 None 0.2339 None gnomAD-4.0.0 6.84234E-07
10071 83 L/R 174 rs879001616 0.1152 None gnomAD-4.0.0 3.18278E-06
10073 85 I/V 176 None 0.1913 None gnomAD-4.0.0 1.59158E-06
10074 86 E/A 178 rs1441211227 0.5888 None gnomAD-2.1.1 4.02E-06
10074 86 E/A 178 rs1441211227 0.5888 None gnomAD-4.0.0 3.18376E-06
10074 86 E/D 178 None 0.5888 None gnomAD-4.0.0 1.20032E-06
10074 86 E/K 178 rs794729402 0.5888 None gnomAD-2.1.1 7.14E-06
10074 86 E/K 178 rs794729402 0.5888 None gnomAD-3.1.2 1.31E-05
10074 86 E/K 178 rs794729402 0.5888 None gnomAD-4.0.0 1.36355E-05