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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 0.5482 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5482 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5482 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2396 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2396 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2396 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3411 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3411 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3651 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3651 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3651 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3651 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3651 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.1948 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.1948 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.1948 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.1948 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.3504 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.3504 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.3451 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3327 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.0990 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.3546 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.3546 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.3546 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.3546 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.3546 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.3546 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.3546 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.3546 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.2921 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3060 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3060 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4595 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4595 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4595 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1690 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1690 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1690 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1690 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1690 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1690 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1690 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1690 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1690 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.9271 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.9271 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.9271 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3395 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2509 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6368 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6368 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2591 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2591 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2591 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2591 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.8430 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2036 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1321 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1321 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1321 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1321 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2784 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2784 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1474 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1474 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1474 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1474 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1474 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1474 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1474 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1474 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1234 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1234 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1234 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1939 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1939 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1137 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1137 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2363 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2363 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2363 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.4356 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.4356 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.4356 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.4356 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6794 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6794 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6794 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9166 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9166 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2496 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5837 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5837 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5837 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.2804 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.2804 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.2804 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.2804 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 0.8909 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 0.4111 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.4111 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1609 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1609 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1609 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1609 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1609 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1609 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1609 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1609 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1609 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1609 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3125 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3125 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3125 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3125 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3125 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3125 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.2809 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.2809 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.2809 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.2809 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4661 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4661 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4203 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4203 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4203 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.6017 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5239 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5239 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5239 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5211 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5211 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5211 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5211 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3548 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3548 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1340 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1340 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1344 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1344 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0807 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2282 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2282 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2282 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1294 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1294 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1294 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1294 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1294 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1294 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0968 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0968 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0968 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.8095 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 0.2075 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.2075 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.5788 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.5788 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.5788 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1624 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.3017 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1341 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1341 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.4014 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.4014 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.4014 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.8672 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.8672 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.7097 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.7097 None gnomAD-4.0.0 1.20032E-06
19080 93 V/G 126 rs2052184132 0.3104 None gnomAD-4.0.0 1.20032E-06
19080 93 V/I 126 rs776003685 0.3104 None gnomAD-2.1.1 4.03E-06
19080 93 V/I 126 rs776003685 0.3104 None gnomAD-3.1.2 1.31E-05
19080 93 V/I 126 rs776003685 0.3104 None gnomAD-4.0.0 3.04501E-06
19081 94 I/T 127 rs78509062 0.1525 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1525 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1525 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1525 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.2517 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0638 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0638 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4022 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4022 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.5186 None gnomAD-4.0.0 1.20032E-06