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

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
18988 1 A/T 1 rs773382779 0.5564 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5564 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5564 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2328 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2328 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2328 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3103 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3103 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3472 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3472 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3472 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3472 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3472 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.1687 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.1687 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.1687 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.1687 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.2950 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.2950 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.2725 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3523 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.0905 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.3703 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.3703 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.3703 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.3703 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.3703 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.3703 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.3703 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.3703 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.2788 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.2958 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.2958 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4330 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4330 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4330 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1443 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1443 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1443 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1443 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1443 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1443 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1443 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1443 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1443 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.8975 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.8975 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.8975 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3305 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2118 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6479 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6479 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2883 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2883 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2883 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2883 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.9408 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2043 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1143 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1143 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1143 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1143 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2949 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2949 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1365 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1365 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1365 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1365 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1365 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1365 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1365 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1365 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1241 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1241 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1241 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1906 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1906 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1027 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1027 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2306 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2306 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2306 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.3881 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.3881 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.3881 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.3881 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6398 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6398 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6398 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9020 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9020 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2442 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5590 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5590 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5590 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.2586 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.2586 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.2586 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.2586 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.5164 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.8874 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.8874 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.8874 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.3948 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.3948 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1458 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1458 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1458 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1458 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1458 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1458 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1458 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1458 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1458 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1458 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3017 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3017 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3017 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3017 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3017 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3017 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.2771 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.2771 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.2771 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.2771 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4614 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4614 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4108 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4108 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4108 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.5979 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5478 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5478 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5478 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5250 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5250 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5250 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5250 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3446 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3446 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1362 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1362 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1237 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1237 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0748 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2498 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2498 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2498 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1253 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1253 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1253 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1253 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1253 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1253 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0989 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0989 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0989 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.8513 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3650 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3650 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.2140 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.2140 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.5940 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.5940 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.5940 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1601 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.2929 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1255 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1255 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.3497 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.3497 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.3497 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.8181 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.8181 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.7038 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.7038 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.3316 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.3316 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.3316 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.3316 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1340 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1340 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1340 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1340 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.3024 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0623 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0623 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.3497 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.3497 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.4853 None gnomAD-4.0.0 1.20032E-06