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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
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 0.4950 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.4950 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.4950 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2627 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2627 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2627 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.2653 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.2653 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3703 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3703 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3703 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3703 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3703 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.4461 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.4461 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.4461 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.4461 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.4129 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.4129 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.4974 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3398 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.1313 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.1930 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.1930 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.1930 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.1930 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.1930 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.1930 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.1930 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.1930 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.3523 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3621 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3621 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.5027 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.5027 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.5027 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1652 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1652 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1652 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1652 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1652 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1652 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1652 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1652 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1652 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.7209 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.7209 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.7209 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3338 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2657 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.5666 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.5666 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.3413 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.3413 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.3413 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.3413 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.5793 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.3113 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1298 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1298 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1298 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1298 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2049 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2049 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1529 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1529 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1529 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1529 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1529 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1529 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1529 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1529 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1217 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1217 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1217 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1756 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1756 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1026 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1026 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.3587 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.3587 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.3587 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.3592 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.3592 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.3592 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.3592 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.5352 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.5352 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.5352 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.8637 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.8637 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2398 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.3269 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.3269 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.3269 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.3083 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.3083 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.3083 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.3083 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.3746 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.4897 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.4897 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.4897 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.3256 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.3256 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1447 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1447 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1447 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1447 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1447 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1447 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1447 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1447 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1447 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1447 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.2668 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.2668 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.2668 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.2668 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.2668 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.2668 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.3437 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.3437 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.3437 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.3437 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4226 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4226 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4004 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4004 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4004 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.5136 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.4400 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.4400 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.4400 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5476 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5476 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5476 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5476 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3820 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3820 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1376 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1376 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.0926 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.0926 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.1146 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2495 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2495 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2495 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1373 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1373 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1373 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1373 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1373 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1373 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0923 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0923 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0923 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.9568 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3671 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3671 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.1772 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.1772 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.3704 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.3704 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.3704 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1384 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.2858 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.2274 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.2274 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.3877 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.3877 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.3877 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.1422 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.1422 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.5613 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.5613 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.2567 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.2567 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.2567 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.2567 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1349 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1349 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1349 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1349 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.3433 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0580 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0580 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4773 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4773 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.8449 None gnomAD-4.0.0 1.20032E-06