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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 0.5865 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5865 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5865 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2502 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2502 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2502 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3493 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3493 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.5674 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.5674 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.5674 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.5674 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.5674 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.1961 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.1961 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.1961 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.1961 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.3813 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.3813 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.4915 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3438 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.1165 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.3832 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.3832 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.3832 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.3832 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.3832 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.3832 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.3832 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.3832 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.3798 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3026 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3026 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4757 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4757 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4757 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1880 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1880 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1880 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1880 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1880 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1880 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1880 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1880 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1880 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.9196 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.9196 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.9196 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3256 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2513 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6310 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6310 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2401 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2401 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2401 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2401 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.9386 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2580 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1563 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1563 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1563 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1563 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.3183 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.3183 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1692 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1692 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1692 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1692 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1692 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1692 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1692 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1692 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1256 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1256 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1256 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1980 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1980 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1553 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1553 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2349 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2349 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2349 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.4655 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.4655 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.4655 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.4655 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6937 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6937 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6937 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9089 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9089 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2830 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5873 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5873 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5873 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.3032 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.3032 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.3032 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.3032 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.5529 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.8999 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.8999 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.8999 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.4503 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.4503 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1736 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1736 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1736 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1736 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1736 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1736 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1736 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1736 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1736 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1736 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3231 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3231 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3231 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3231 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3231 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3231 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.3122 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.3122 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.3122 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.3122 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4984 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4984 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4560 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4560 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4560 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.6641 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5458 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5458 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5458 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5334 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5334 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5334 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5334 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3374 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3374 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1323 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1323 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1631 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1631 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0998 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2585 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2585 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2585 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1662 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1662 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1662 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1662 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1662 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1662 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.1040 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.1040 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.1040 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.7781 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3561 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3561 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.2245 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.2245 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.6603 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.6603 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.6603 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1823 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.3676 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1703 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1703 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.9943 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.9943 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.9943 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.2645 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.2645 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 1.0144 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 1.0144 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.3189 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.3189 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.3189 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.3189 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1963 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1963 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1963 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1963 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.2808 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0712 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0712 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4094 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4094 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.6367 None gnomAD-4.0.0 1.20032E-06