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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 0.5196 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5196 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5196 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2099 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2099 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2099 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3091 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3091 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3618 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3618 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3618 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3618 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3618 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.1692 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.1692 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.1692 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.1692 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.3107 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.3107 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.2991 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3212 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.0919 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.3344 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.3344 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.3344 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.3344 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.3344 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.3344 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.3344 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.3344 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.2825 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3043 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3043 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4403 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4403 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4403 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1499 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1499 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1499 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1499 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1499 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1499 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1499 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1499 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1499 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.9155 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.9155 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.9155 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3311 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2345 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6505 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6505 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2492 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2492 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2492 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2492 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.7949 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2212 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1235 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1235 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1235 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1235 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2599 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2599 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1393 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1393 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1393 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1393 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1393 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1393 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1393 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1393 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1569 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1569 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1569 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1833 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1833 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1448 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1448 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2137 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2137 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2137 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.4237 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.4237 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.4237 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.4237 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6614 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6614 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6614 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9139 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9139 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2591 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5489 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5489 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5489 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.2807 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.2807 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.2807 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.2807 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.4836 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.8909 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.8909 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.8909 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.4575 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.4575 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1581 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1581 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1581 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1581 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1581 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1581 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1581 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1581 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1581 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1581 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3075 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3075 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3075 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3075 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3075 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3075 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.2691 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.2691 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.2691 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.2691 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4725 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4725 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4341 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4341 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4341 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.6601 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5351 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5351 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5351 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5229 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5229 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5229 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5229 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3267 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3267 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1333 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1333 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1268 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1268 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0715 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2583 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2583 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2583 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1239 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1239 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1239 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1239 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1239 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1239 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0904 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0904 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0904 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.7443 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3449 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3449 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.2010 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.2010 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.5210 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.5210 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.5210 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1358 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.2881 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1137 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1137 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.3921 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.3921 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.3921 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.8350 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.8350 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.6809 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.6809 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.3181 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.3181 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.3181 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.3181 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1328 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1328 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1328 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1328 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.2420 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0595 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0595 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4106 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4106 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.5621 None gnomAD-4.0.0 1.20032E-06