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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

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