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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
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 0.5378 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5378 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5378 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2197 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2197 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2197 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3334 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3334 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3754 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3754 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3754 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3754 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3754 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.2012 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.2012 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.2012 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.2012 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.3663 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.3663 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.4445 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3134 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.0928 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.3248 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.3248 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.3248 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.3248 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.3248 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.3248 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.3248 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.3248 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.2906 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3086 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3086 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4645 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4645 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4645 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1746 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1746 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1746 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1746 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1746 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1746 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1746 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1746 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1746 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.9300 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.9300 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.9300 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3544 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2382 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6442 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6442 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2484 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2484 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2484 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2484 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.8028 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2426 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1372 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1372 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1372 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1372 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2426 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2426 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1431 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1431 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1431 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1431 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1431 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1431 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1431 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1431 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1499 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1499 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1499 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1834 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1834 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1434 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1434 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2001 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2001 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2001 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.4490 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.4490 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.4490 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.4490 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6545 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6545 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6545 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9024 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9024 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2611 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5505 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5505 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5505 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.2697 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.2697 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.2697 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.2697 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.4893 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.8904 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.8904 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.8904 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.4410 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.4410 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1652 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1652 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1652 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1652 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1652 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1652 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1652 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1652 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1652 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1652 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3116 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3116 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3116 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3116 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3116 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3116 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.2842 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.2842 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.2842 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.2842 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4894 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4894 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4312 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4312 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4312 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.6198 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5357 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5357 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5357 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5197 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5197 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5197 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5197 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3200 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3200 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1268 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1268 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1337 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1337 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0750 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2270 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2270 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2270 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1277 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1277 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1277 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1277 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1277 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1277 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0949 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0949 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0949 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.7488 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3525 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3525 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.1957 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.1957 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.4789 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.4789 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.4789 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1283 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.2920 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1177 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1177 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.4138 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.4138 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.4138 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.8353 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.8353 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.6936 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.6936 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.3358 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.3358 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.3358 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.3358 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1511 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1511 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1511 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1511 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.2388 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0546 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0546 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4026 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4026 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.5947 None gnomAD-4.0.0 1.20032E-06