Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 0.5117 None gnomAD-2.1.1 8.16E-06
18988 1 A/T 1 rs773382779 0.5117 None gnomAD-3.1.2 6.58E-06
18988 1 A/T 1 rs773382779 0.5117 None gnomAD-4.0.0 1.15788E-05
18991 4 G/D 4 rs1359328880 0.2285 None gnomAD-2.1.1 3.19E-05
18991 4 G/D 4 rs1359328880 0.2285 None gnomAD-3.1.2 1.32E-05
18991 4 G/D 4 rs1359328880 0.2285 None gnomAD-4.0.0 1.31671E-05
18992 5 P/L 5 None 0.3453 None gnomAD-4.0.0 1.62039E-06
18992 5 P/S 5 rs878938953 0.3453 None gnomAD-4.0.0 2.75713E-06
18996 9 K/Q 11 rs541709149 0.3595 None gnomAD-2.1.1 2.1E-05
18996 9 K/Q 11 rs541709149 0.3595 None gnomAD-3.1.2 6.58E-06
18996 9 K/Q 11 rs541709149 0.3595 None 1000 genomes 1.99681E-04
18996 9 K/Q 11 rs541709149 0.3595 None gnomAD-4.0.0 8.72732E-06
18996 9 K/R 11 rs1002471047 0.3595 None gnomAD-4.0.0 9.6924E-06
18997 10 V/E 12 None 0.1800 None gnomAD-4.0.0 6.88499E-07
18997 10 V/G 12 rs763286782 0.1800 None gnomAD-2.1.1 4.19E-06
18997 10 V/G 12 rs763286782 0.1800 None gnomAD-3.1.2 3.95E-05
18997 10 V/G 12 rs763286782 0.1800 None gnomAD-4.0.0 6.23258E-06
18998 11 T/A 13 rs773331027 0.3010 None gnomAD-2.1.1 4.18E-06
18998 11 T/A 13 rs773331027 0.3010 None gnomAD-4.0.0 3.22797E-06
18999 12 D/H 14 rs2052422100 0.2502 None gnomAD-4.0.0 6.88008E-07
19003 16 S/A 18 rs2052418644 0.3106 None gnomAD-4.0.0 1.6053E-06
19005 18 A/V 20 None 0.0926 None gnomAD-4.0.0 2.40065E-06
19006 19 D/A 21 rs747343924 0.2983 None gnomAD-2.1.1 8.21E-06
19006 19 D/A 21 rs747343924 0.2983 None gnomAD-3.1.2 1.32E-05
19006 19 D/A 21 rs747343924 0.2983 None gnomAD-4.0.0 3.10847E-06
19006 19 D/E 21 rs780515211 0.2983 None gnomAD-2.1.1 7.27E-06
19006 19 D/E 21 rs780515211 0.2983 None gnomAD-3.1.2 1.32E-05
19006 19 D/E 21 rs780515211 0.2983 None gnomAD-4.0.0 4.97362E-06
19006 19 D/G 21 rs747343924 0.2983 None gnomAD-2.1.1 4.1E-06
19006 19 D/G 21 rs747343924 0.2983 None gnomAD-4.0.0 7.55246E-06
19008 21 E/K 23 None 0.2784 None gnomAD-4.0.0 1.60466E-06
19010 23 S/A 25 rs758709446 0.3158 None gnomAD-2.1.1 4.1E-06
19010 23 S/A 25 rs758709446 0.3158 None gnomAD-4.0.0 1.60333E-06
19011 24 P/S 26 rs1436800817 0.4652 None gnomAD-2.1.1 1.59398E-04
19011 24 P/S 26 rs1436800817 0.4652 None gnomAD-3.1.2 1.97E-05
19011 24 P/S 26 rs1436800817 0.4652 None gnomAD-4.0.0 6.44629E-06
19012 25 P/L 27 rs777291480 0.1583 None gnomAD-2.1.1 3.19E-05
19012 25 P/L 27 rs777291480 0.1583 None gnomAD-3.1.2 6.58E-06
19012 25 P/L 27 rs777291480 0.1583 None gnomAD-4.0.0 1.24346E-06
19012 25 P/Q 27 None 0.1583 None gnomAD-2.1.1 1.09E-05
19012 25 P/Q 27 None 0.1583 None gnomAD-3.1.2 6.58E-06
19012 25 P/Q 27 None 0.1583 None gnomAD-4.0.0 8.70425E-06
19012 25 P/R 27 rs777291480 0.1583 None gnomAD-2.1.1 1.64E-05
19012 25 P/R 27 rs777291480 0.1583 None gnomAD-4.0.0 9.61228E-06
19012 25 P/S 27 None 0.1583 None gnomAD-4.0.0 1.20033E-06
19013 26 L/P 28 rs991075111 0.9434 None gnomAD-4.0.0 3.43309E-06
19013 26 L/V 28 None 0.9434 None gnomAD-2.1.1 4.11E-06
19013 26 L/V 28 None 0.9434 None gnomAD-4.0.0 2.05983E-06
19015 28 D/G 30 None 0.3426 None gnomAD-4.0.0 1.60579E-06
19016 29 G/S 31 rs933740725 0.2618 None gnomAD-4.0.0 1.60659E-06
19017 30 G/R 32 rs771034764 0.6555 None gnomAD-2.1.1 8.25E-06
19017 30 G/R 32 rs771034764 0.6555 None gnomAD-4.0.0 1.99204E-05
19018 31 S/A 33 rs367822879 0.2618 None gnomAD-2.1.1 8.25E-06
19018 31 S/A 33 rs367822879 0.2618 None gnomAD-3.1.2 6.58E-06
19018 31 S/A 33 rs367822879 0.2618 None gnomAD-4.0.0 9.95087E-06
19018 31 S/T 33 None 0.2618 None gnomAD-4.0.0 6.86815E-07
19019 32 K/T 34 None 0.7974 None gnomAD-4.0.0 1.20034E-06
19020 33 V/I 35 None 0.2189 None gnomAD-4.0.0 1.20034E-06
19023 36 Y/N 38 rs572368746 0.1204 None gnomAD-2.1.1 4.09E-06
19023 36 Y/N 38 rs572368746 0.1204 None gnomAD-3.1.2 6.58E-06
19023 36 Y/N 38 rs572368746 0.1204 None 1000 genomes 1.99681E-04
19023 36 Y/N 38 rs572368746 0.1204 None gnomAD-4.0.0 6.57454E-06
19024 37 I/V 39 rs876658068 0.2665 None gnomAD-3.1.2 2.63E-05
19024 37 I/V 39 rs876658068 0.2665 None gnomAD-4.0.0 6.09015E-06
19025 38 V/A 40 rs762688055 0.1467 None gnomAD-2.1.1 3.62E-05
19025 38 V/A 40 rs762688055 0.1467 None gnomAD-3.1.2 1.97E-05
19025 38 V/A 40 rs762688055 0.1467 None gnomAD-4.0.0 8.6995E-06
19025 38 V/F 40 None 0.1467 None gnomAD-4.0.0 6.8647E-07
19025 38 V/I 40 rs181957743 0.1467 None gnomAD-2.1.1 1.70452E-04
19025 38 V/I 40 rs181957743 0.1467 None gnomAD-3.1.2 1.11873E-04
19025 38 V/I 40 rs181957743 0.1467 None 1000 genomes 1.99681E-04
19025 38 V/I 40 rs181957743 0.1467 None gnomAD-4.0.0 5.84285E-05
19026 39 E/D 41 None 0.1674 None gnomAD-4.0.0 1.60275E-06
19026 39 E/Q 41 rs794727393 0.1674 None gnomAD-3.1.2 6.58E-06
19026 39 E/Q 41 rs794727393 0.1674 None gnomAD-4.0.0 4.35069E-06
19027 40 Y/C 42 rs1275283475 0.1786 None gnomAD-2.1.1 4.09E-06
19027 40 Y/C 42 rs1275283475 0.1786 None gnomAD-4.0.0 1.60327E-06
19028 41 K/T 43 rs765612779 0.1480 None gnomAD-2.1.1 8.18E-06
19028 41 K/T 43 rs765612779 0.1480 None gnomAD-4.0.0 3.20645E-06
19029 42 E/K 44 None 0.2190 None gnomAD-4.0.0 1.37312E-06
19029 42 E/Q 44 rs761979702 0.2190 None gnomAD-2.1.1 1.64E-05
19029 42 E/Q 44 rs761979702 0.2190 None gnomAD-4.0.0 1.51043E-05
19030 43 E/D 50 rs1402903802 0.4483 None gnomAD-2.1.1 1.23E-05
19030 43 E/D 50 rs1402903802 0.4483 None gnomAD-4.0.0 6.42224E-06
19030 43 E/G 50 None 0.4483 None gnomAD-4.0.0 6.86858E-07
19030 43 E/K 50 rs966403005 0.4483 None gnomAD-4.0.0 2.74775E-06
19031 44 G/E 51 rs1064797275 0.6650 None gnomAD-4.0.0 2.75129E-06
19031 44 G/R 51 rs1347090797 0.6650 None gnomAD-2.1.1 4.12E-06
19031 44 G/R 51 rs1347090797 0.6650 None gnomAD-4.0.0 1.60758E-06
19034 47 E/A 64 None 0.9158 None gnomAD-4.0.0 2.06382E-06
19034 47 E/K 64 rs1021198349 0.9158 None gnomAD-4.0.0 1.61298E-06
19035 48 W/R 65 None 0.2744 None gnomAD-4.0.0 1.20032E-06
19037 50 K/E 67 rs1400944262 0.5858 None gnomAD-2.1.1 3.19E-05
19037 50 K/E 67 rs1400944262 0.5858 None gnomAD-3.1.2 6.58E-06
19037 50 K/E 67 rs1400944262 0.5858 None gnomAD-4.0.0 6.57618E-06
19038 51 G/D 68 rs1404640641 0.2766 None gnomAD-2.1.1 4.07E-06
19038 51 G/D 68 rs1404640641 0.2766 None gnomAD-4.0.0 3.42789E-06
19038 51 G/V 68 rs1404640641 0.2766 None gnomAD-2.1.1 1.63E-05
19038 51 G/V 68 rs1404640641 0.2766 None gnomAD-4.0.0 5.48463E-06
19039 52 K/E 69 None 0.5030 None gnomAD-4.0.0 1.20044E-06
19041 54 K/Q 72 rs1334101213 0.8908 None gnomAD-2.1.1 7.17E-06
19041 54 K/Q 72 rs1334101213 0.8908 None gnomAD-3.1.2 1.97E-05
19041 54 K/Q 72 rs1334101213 0.8908 None gnomAD-4.0.0 4.96182E-06
19042 55 E/Q 75 rs1471278707 0.4708 None gnomAD-2.1.1 4.03E-06
19042 55 E/Q 75 rs1471278707 0.4708 None gnomAD-4.0.0 1.59434E-06
19043 56 V/A 77 rs567967628 0.1630 None gnomAD-2.1.1 1.61E-05
19043 56 V/A 77 rs567967628 0.1630 None gnomAD-3.1.2 6.58E-06
19043 56 V/A 77 rs567967628 0.1630 None gnomAD-4.0.0 4.96129E-06
19043 56 V/E 77 None 0.1630 None gnomAD-4.0.0 6.84701E-07
19043 56 V/G 77 rs567967628 0.1630 None gnomAD-2.1.1 1.21E-05
19043 56 V/G 77 rs567967628 0.1630 None gnomAD-3.1.2 6.58E-06
19043 56 V/G 77 rs567967628 0.1630 None 1000 genomes 1.99681E-04
19043 56 V/G 77 rs567967628 0.1630 None gnomAD-4.0.0 5.58104E-06
19043 56 V/M 77 rs1406392460 0.1630 None gnomAD-3.1.2 1.31E-05
19043 56 V/M 77 rs1406392460 0.1630 None gnomAD-4.0.0 3.0451E-06
19045 58 G/R 88 rs900912009 0.3114 None gnomAD-2.1.1 8.05E-06
19045 58 G/R 88 rs900912009 0.3114 None gnomAD-3.1.2 6.58E-06
19045 58 G/R 88 rs900912009 0.3114 None gnomAD-4.0.0 1.53893E-05
19045 58 G/V 88 rs1410477544 0.3114 None gnomAD-2.1.1 4.03E-06
19045 58 G/V 88 rs1410477544 0.3114 None gnomAD-3.1.2 6.58E-06
19045 58 G/V 88 rs1410477544 0.3114 None gnomAD-4.0.0 2.56519E-06
19046 59 T/A 89 rs1177930416 0.2653 None gnomAD-2.1.1 4.03E-06
19046 59 T/A 89 rs1177930416 0.2653 None gnomAD-4.0.0 1.3691E-06
19046 59 T/I 89 rs1039868345 0.2653 None gnomAD-4.0.0 1.59307E-06
19046 59 T/R 89 rs1039868345 0.2653 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4772 None gnomAD-2.1.1 4.02E-06
19047 60 K/N 90 rs758155786 0.4772 None gnomAD-4.0.0 1.59283E-06
19049 62 V/I 92 rs750251277 0.4344 None gnomAD-2.1.1 8.04E-05
19049 62 V/I 92 rs750251277 0.4344 None gnomAD-3.1.2 6.58E-06
19049 62 V/I 92 rs750251277 0.4344 None gnomAD-4.0.0 3.07683E-05
19051 64 T/P 94 None 0.6428 None gnomAD-4.0.0 1.59234E-06
19052 65 G/E 96 rs867041175 0.5358 None gnomAD-4.0.0 2.40068E-06
19052 65 G/R 96 rs2052208575 0.5358 None gnomAD-3.1.2 6.58E-06
19052 65 G/R 96 rs2052208575 0.5358 None gnomAD-4.0.0 1.20034E-06
19055 68 E/D 99 rs1263660973 0.5292 None gnomAD-2.1.1 4.02E-06
19055 68 E/D 99 rs1263660973 0.5292 None gnomAD-3.1.2 6.57E-06
19055 68 E/D 99 rs1263660973 0.5292 None gnomAD-4.0.0 6.84367E-07
19055 68 E/Q 99 None 0.5292 None gnomAD-4.0.0 1.59217E-06
19056 69 G/E 100 None 0.3294 None gnomAD-4.0.0 1.20033E-06
19056 69 G/R 100 None 0.3294 None gnomAD-4.0.0 1.20034E-06
19057 70 A/T 102 None 0.1342 None gnomAD-4.0.0 1.36876E-06
19057 70 A/V 102 rs1272197351 0.1342 None gnomAD-3.1.2 1.32E-05
19061 74 F/L 106 None 0.1403 None gnomAD-4.0.0 3.60098E-06
19061 74 F/Y 106 None 0.1403 None gnomAD-4.0.0 1.20034E-06
19063 76 V/I 108 None 0.0776 None gnomAD-4.0.0 1.59213E-06
19064 77 R/T 109 rs114405804 0.2235 None gnomAD-3.1.2 6.58E-06
19064 77 R/T 109 rs114405804 0.2235 None 1000 genomes 1.99681E-04
19064 77 R/T 109 rs114405804 0.2235 None gnomAD-4.0.0 6.57091E-06
19066 79 V/A 111 rs537440385 0.1178 None gnomAD-2.1.1 4.02E-06
19066 79 V/A 111 rs537440385 0.1178 None gnomAD-3.1.2 2.63E-05
19066 79 V/A 111 rs537440385 0.1178 None 1000 genomes 1.99681E-04
19066 79 V/A 111 rs537440385 0.1178 None gnomAD-4.0.0 5.57823E-06
19066 79 V/I 111 rs1308704992 0.1178 None gnomAD-2.1.1 4.02E-06
19066 79 V/I 111 rs1308704992 0.1178 None gnomAD-4.0.0 1.59209E-06
19067 80 N/K 112 rs762173832 0.0991 None gnomAD-2.1.1 1.21E-05
19067 80 N/K 112 rs762173832 0.0991 None gnomAD-3.1.2 6.58E-06
19067 80 N/K 112 rs762173832 0.0991 None gnomAD-4.0.0 1.41005E-05
19068 81 I/M 113 None 0.8347 None gnomAD-4.0.0 1.59212E-06
19069 82 A/V 114 rs1477752765 0.3764 None gnomAD-3.1.2 6.58E-06
19069 82 A/V 114 rs1477752765 0.3764 None gnomAD-4.0.0 2.0301E-06
19070 83 G/C 115 rs754134244 0.2077 None gnomAD-2.1.1 8.04E-06
19070 83 G/C 115 rs754134244 0.2077 None gnomAD-4.0.0 1.59226E-06
19071 84 I/T 117 rs200001206 0.5059 None gnomAD-2.1.1 3.28508E-04
19071 84 I/T 117 rs200001206 0.5059 None gnomAD-3.1.2 3.4184E-04
19071 84 I/T 117 rs200001206 0.5059 None gnomAD-4.0.0 3.94811E-04
19072 85 G/R 118 None 0.1311 None gnomAD-4.0.0 1.20032E-06
19074 87 P/R 120 None 0.2964 None gnomAD-4.0.0 1.59233E-06
19075 88 G/A 121 rs2154190109 0.1186 None gnomAD-4.0.0 1.36882E-06
19075 88 G/E 121 None 0.1186 None gnomAD-4.0.0 1.36882E-06
19076 89 E/D 122 rs1288756593 0.4546 None gnomAD-2.1.1 4.02E-06
19076 89 E/D 122 rs1288756593 0.4546 None gnomAD-4.0.0 4.10642E-06
19076 89 E/K 122 None 0.4546 None gnomAD-4.0.0 1.20032E-06
19078 91 T/I 124 rs1452086800 0.8412 None gnomAD-2.1.1 4.02E-06
19078 91 T/I 124 rs1452086800 0.8412 None gnomAD-4.0.0 1.59238E-06
19079 92 D/N 125 rs1160274836 0.7086 None gnomAD-4.0.0 1.5924E-06
19079 92 D/V 125 None 0.7086 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 0.1449 None gnomAD-2.1.1 7.5E-05
19081 94 I/T 127 rs78509062 0.1449 None gnomAD-3.1.2 1.44625E-04
19081 94 I/T 127 rs78509062 0.1449 None 1000 genomes 1.99681E-04
19081 94 I/T 127 rs78509062 0.1449 None gnomAD-4.0.0 1.63638E-04
19082 95 E/D 129 None 0.2562 None gnomAD-4.0.0 1.59246E-06
19083 96 M/I 130 None 0.0583 None gnomAD-4.0.0 1.3689E-06
19083 96 M/R 130 None 0.0583 None gnomAD-4.0.0 1.36887E-06
19084 97 K/T 131 rs1445268725 0.4128 None gnomAD-2.1.1 4.03E-06
19084 97 K/T 131 rs1445268725 0.4128 None gnomAD-4.0.0 1.59256E-06
19085 98 D/N 132 None 0.5174 None gnomAD-4.0.0 1.20032E-06