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
P S F V Q K P D P M D V L T G T N V T F T S I V K G T P P F S V S W F K G S S E L V P G D R C N V S L E D S V A E L E L F D V D T S Q S G E Y T C I V S N E A G K A S C T T H L Y I

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9019 1 P/L 1 None 0.2049 None gnomAD-4.0.0 1.37006E-06
9019 1 P/R 1 None 0.2049 None gnomAD-4.0.0 6.85028E-07
9019 1 P/S 1 rs2076880929 0.2049 None gnomAD-3.1.2 6.57E-06
9019 1 P/S 1 rs2076880929 0.2049 None gnomAD-4.0.0 2.56768E-06
9020 2 S/F 2 rs1211690126 0.3010 None gnomAD-2.1.1 4.05E-06
9020 2 S/F 2 rs1211690126 0.3010 None gnomAD-4.0.0 6.84952E-07
9020 2 S/T 2 None 0.3010 None gnomAD-4.0.0 2.05486E-06
9020 2 S/Y 2 None 0.3010 None gnomAD-4.0.0 6.84952E-07
9021 3 F/L 3 rs754185678 0.1971 None gnomAD-2.1.1 4.05E-06
9021 3 F/L 3 rs754185678 0.1971 None gnomAD-4.0.0 1.59495E-06
9025 7 P/L 8 rs1203714029 0.1618 None gnomAD-2.1.1 3.19E-05
9025 7 P/L 8 rs1203714029 0.1618 None gnomAD-3.1.2 6.57E-06
9025 7 P/L 8 rs1203714029 0.1618 None gnomAD-4.0.0 6.41422E-06
9027 9 P/L 11 rs1356270449 0.5281 None gnomAD-4.0.0 9.58509E-06
9027 9 P/T 11 rs2154296309 0.5281 None gnomAD-4.0.0 1.36931E-06
9028 10 M/V 13 rs2076878438 0.2351 None gnomAD-4.0.0 2.40064E-06
9029 11 D/G 14 rs1336740450 0.5375 None gnomAD-2.1.1 6.37E-05
9029 11 D/G 14 rs1336740450 0.5375 None gnomAD-3.1.2 1.97E-05
9029 11 D/G 14 rs1336740450 0.5375 None gnomAD-4.0.0 4.05966E-06
9032 14 T/P 23 None 0.5705 None gnomAD-4.0.0 3.42281E-06
9033 15 G/E 24 None 0.2479 None gnomAD-4.0.0 1.59319E-06
9034 16 T/S 25 rs2076876830 0.2893 None gnomAD-3.1.2 6.57E-06
9034 16 T/S 25 rs2076876830 0.2893 None gnomAD-4.0.0 6.57117E-06
9035 17 N/D 26 None 0.5587 None gnomAD-4.0.0 6.8452E-07
9035 17 N/H 26 rs761176331 0.5587 None gnomAD-2.1.1 3.24E-05
9035 17 N/H 26 rs761176331 0.5587 None gnomAD-3.1.2 6.57E-06
9035 17 N/H 26 rs761176331 0.5587 None gnomAD-4.0.0 8.67838E-06
9035 17 N/S 26 rs1380931214 0.5587 None gnomAD-2.1.1 4.05E-06
9035 17 N/S 26 rs1380931214 0.5587 None gnomAD-4.0.0 1.5931E-06
9036 18 V/A 28 None 0.1500 None gnomAD-4.0.0 1.59279E-06
9036 18 V/L 28 rs2076875576 0.1500 None gnomAD-3.1.2 6.57E-06
9036 18 V/L 28 rs2076875576 0.1500 None gnomAD-4.0.0 6.57039E-06
9038 20 F/V 30 None 0.1042 None gnomAD-4.0.0 1.20032E-06
9039 21 T/I 31 rs1560585408 0.2940 None gnomAD-4.0.0 1.59269E-06
9039 21 T/R 31 None 0.2940 None gnomAD-4.0.0 1.59269E-06
9040 22 S/G 33 rs751149532 0.0932 None gnomAD-2.1.1 4.04E-06
9040 22 S/G 33 rs751149532 0.0932 None gnomAD-4.0.0 1.5926E-06
9041 23 I/M 34 rs890920556 0.2997 None gnomAD-4.0.0 1.3689E-06
9041 23 I/V 34 rs1395755933 0.2997 None gnomAD-4.0.0 4.10656E-06
9042 24 V/I 35 rs766095051 0.1292 None gnomAD-2.1.1 4.3E-05
9042 24 V/I 35 rs766095051 0.1292 None gnomAD-3.1.2 3.29E-05
9042 24 V/I 35 rs766095051 0.1292 None gnomAD-4.0.0 2.60334E-05
9044 26 G/E 40 rs1417836268 0.3054 None gnomAD-4.0.0 6.84395E-07
9044 26 G/R 40 rs762328648 0.3054 None gnomAD-2.1.1 1.21E-05
9044 26 G/R 40 rs762328648 0.3054 None gnomAD-4.0.0 4.79077E-06
9045 27 T/A 41 None 0.7620 None gnomAD-4.0.0 1.59199E-06
9045 27 T/K 41 None 0.7620 None gnomAD-4.0.0 6.8436E-07
9046 28 P/S 42 rs772800519 0.4931 None gnomAD-2.1.1 2.82E-05
9046 28 P/S 42 rs772800519 0.4931 None gnomAD-4.0.0 6.84321E-06
9048 30 F/L 44 None 0.2333 None gnomAD-4.0.0 1.59175E-06
9048 30 F/V 44 None 0.2333 None gnomAD-4.0.0 1.59175E-06
9049 31 S/G 45 None 0.3960 None gnomAD-4.0.0 3.60097E-06
9051 33 S/R 47 rs1159097738 0.2722 None gnomAD-2.1.1 4.03E-06
9051 33 S/R 47 rs1159097738 0.2722 None gnomAD-4.0.0 1.36857E-06
9052 34 W/C 48 None 0.1120 None gnomAD-4.0.0 1.20032E-06
9052 34 W/L 48 None 0.1120 None gnomAD-4.0.0 1.36853E-06
9052 34 W/S 48 rs769663130 0.1120 None gnomAD-2.1.1 4.03E-06
9052 34 W/S 48 rs769663130 0.1120 None gnomAD-4.0.0 3.42133E-06
9053 35 F/L 49 rs1462769161 0.1796 None gnomAD-3.1.2 6.57E-06
9053 35 F/L 49 rs1462769161 0.1796 None gnomAD-4.0.0 4.10557E-06
9053 35 F/S 49 rs761745332 0.1796 None gnomAD-2.1.1 4.03E-06
9053 35 F/S 49 rs761745332 0.1796 None gnomAD-3.1.2 6.57E-06
9053 35 F/S 49 rs761745332 0.1796 None gnomAD-4.0.0 1.85915E-06
9053 35 F/Y 49 None 0.1796 None gnomAD-4.0.0 1.36851E-06
9054 36 K/R 50 None 0.2630 None gnomAD-4.0.0 1.20032E-06
9055 37 G/D 51 rs1297995123 0.4361 None gnomAD-3.1.2 6.57E-06
9055 37 G/D 51 rs1297995123 0.4361 None gnomAD-4.0.0 6.57168E-06
9055 37 G/R 51 rs776617677 0.4361 None gnomAD-2.1.1 4.03E-06
9055 37 G/V 51 None 0.4361 None gnomAD-4.0.0 1.20032E-06
9056 38 S/N 52 None 0.8303 None gnomAD-4.0.0 6.84251E-07
9057 39 S/C 55 None 0.4956 None gnomAD-4.0.0 6.84241E-07
9057 39 S/G 55 rs1472858886 0.4956 None gnomAD-4.0.0 4.78968E-06
9057 39 S/N 55 rs768427223 0.4956 None gnomAD-2.1.1 3.62E-05
9057 39 S/N 55 rs768427223 0.4956 None gnomAD-3.1.2 1.31E-05
9057 39 S/N 55 rs768427223 0.4956 None gnomAD-4.0.0 1.17743E-05
9057 39 S/R 55 rs1472858886 0.4956 None gnomAD-2.1.1 4.03E-06
9057 39 S/R 55 rs1472858886 0.4956 None gnomAD-3.1.2 1.31E-05
9057 39 S/R 55 rs1472858886 0.4956 None gnomAD-4.0.0 1.8591E-06
9057 39 S/T 55 rs768427223 0.4956 None gnomAD-3.1.2 6.57E-06
9057 39 S/T 55 rs768427223 0.4956 None gnomAD-4.0.0 6.57022E-06
9058 40 E/G 56 None 0.4294 None gnomAD-4.0.0 6.84235E-07
9058 40 E/Q 56 rs2154296273 0.4294 None gnomAD-4.0.0 1.20032E-06
9059 41 L/R 58 rs780110919 0.2397 None gnomAD-2.1.1 8.05E-06
9059 41 L/R 58 rs780110919 0.2397 None gnomAD-3.1.2 1.31E-05
9059 41 L/R 58 rs780110919 0.2397 None gnomAD-4.0.0 1.30136E-05
9060 42 V/I 59 None 0.6554 None gnomAD-4.0.0 3.18274E-06
9061 43 P/A 70 rs772373852 0.5059 None gnomAD-2.1.1 4.02E-06
9061 43 P/A 70 rs772373852 0.5059 None gnomAD-4.0.0 2.73692E-06
9061 43 P/Q 70 None 0.5059 None gnomAD-4.0.0 2.05269E-06
9062 44 G/D 73 rs2076863963 0.3767 None gnomAD-3.1.2 6.57E-06
9062 44 G/D 73 rs2076863963 0.3767 None gnomAD-4.0.0 6.57142E-06
9062 44 G/R 73 rs1287177900 0.3767 None gnomAD-2.1.1 4.02E-06
9062 44 G/R 73 rs1287177900 0.3767 None gnomAD-4.0.0 6.84233E-07
9062 44 G/S 73 None 0.3767 None gnomAD-4.0.0 6.84233E-07
9063 45 D/G 102 rs2076862575 1.1254 None gnomAD-4.0.0 3.1827E-06
9065 47 C/G 121 rs201229221 0.1474 None gnomAD-2.1.1 4.02E-06
9065 47 C/R 121 rs201229221 0.1474 None gnomAD-2.1.1 4.29E-05
9065 47 C/R 121 rs201229221 0.1474 None gnomAD-3.1.2 7.23E-05
9065 47 C/R 121 rs201229221 0.1474 None gnomAD-4.0.0 1.62979E-04
9065 47 C/S 121 None 0.1474 None gnomAD-4.0.0 6.8422E-07
9066 48 N/H 122 None 0.4490 None gnomAD-4.0.0 7.20193E-06
9066 48 N/K 122 rs369529493 0.4490 None gnomAD-2.1.1 1.2876E-04
9066 48 N/K 122 rs369529493 0.4490 None gnomAD-3.1.2 1.31E-05
9066 48 N/K 122 rs369529493 0.4490 None gnomAD-4.0.0 1.36846E-06
9066 48 N/S 122 rs2076861008 0.4490 None gnomAD-3.1.2 6.57E-06
9066 48 N/S 122 rs2076861008 0.4490 None gnomAD-4.0.0 3.09854E-06
9067 49 V/L 123 rs543334845 0.2487 None gnomAD-2.1.1 8.05E-06
9067 49 V/L 123 rs543334845 0.2487 None gnomAD-4.0.0 3.18277E-06
9067 49 V/M 123 rs543334845 0.2487 None gnomAD-2.1.1 1.21E-05
9067 49 V/M 123 rs543334845 0.2487 None gnomAD-3.1.2 6.57E-06
9067 49 V/M 123 rs543334845 0.2487 None 1000 genomes 1.99681E-04
9067 49 V/M 123 rs543334845 0.2487 None gnomAD-4.0.0 6.40482E-06
9069 51 L/V 127 None 0.3516 None gnomAD-4.0.0 1.59135E-06
9070 52 E/D 130 rs1226337905 0.7873 None gnomAD-3.1.2 6.57E-06
9070 52 E/D 130 rs1226337905 0.7873 None gnomAD-4.0.0 6.57246E-06
9071 53 D/N 131 None 0.9932 None gnomAD-4.0.0 1.59136E-06
9071 53 D/V 131 rs886044486 0.9932 None gnomAD-2.1.1 1.21E-05
9071 53 D/V 131 rs886044486 0.9932 None gnomAD-3.1.2 6.57E-06
9071 53 D/V 131 rs886044486 0.9932 None gnomAD-4.0.0 5.12447E-06
9073 55 V/D 135 None 0.2582 None gnomAD-4.0.0 1.59134E-06
9073 55 V/L 135 rs756400799 0.2582 None gnomAD-2.1.1 2.14E-05
9073 55 V/L 135 rs756400799 0.2582 None gnomAD-3.1.2 1.97E-05
9073 55 V/L 135 rs756400799 0.2582 None gnomAD-4.0.0 4.2136E-05
9075 57 E/K 137 rs1560584120 0.3496 None gnomAD-4.0.0 1.36846E-06
9076 58 L/V 138 None 0.0702 None gnomAD-4.0.0 1.36846E-06
9077 59 E/V 139 rs1184239889 0.3535 None gnomAD-2.1.1 3.18E-05
9078 60 L/F 140 None 0.1283 None gnomAD-4.0.0 6.84223E-07
9079 61 F/I 141 None 0.3221 None gnomAD-4.0.0 1.36844E-06
9080 62 D/E 143 rs1418163017 0.6623 None gnomAD-4.0.0 6.84218E-07
9080 62 D/N 143 rs1405635875 0.6623 None gnomAD-2.1.1 4.03E-06
9080 62 D/N 143 rs1405635875 0.6623 None gnomAD-4.0.0 4.10535E-06
9082 64 D/G 145 None 0.3123 None gnomAD-4.0.0 2.05266E-06
9082 64 D/H 145 rs749836809 0.3123 None gnomAD-2.1.1 1.21E-05
9082 64 D/H 145 rs749836809 0.3123 None gnomAD-3.1.2 2.63E-05
9082 64 D/H 145 rs749836809 0.3123 None gnomAD-4.0.0 4.9576E-06
9083 65 T/A 146 None 0.5772 None gnomAD-4.0.0 1.20032E-06
9083 65 T/I 146 None 0.5772 None gnomAD-4.0.0 1.5913E-06
9084 66 S/T 148 rs761372985 0.4358 None gnomAD-2.1.1 4.03E-06
9084 66 S/T 148 rs761372985 0.4358 None gnomAD-4.0.0 3.42109E-06
9086 68 S/C 151 None 0.2232 None gnomAD-4.0.0 1.20032E-06
9086 68 S/R 151 None 0.2232 None gnomAD-4.0.0 6.84219E-07
9087 69 G/E 152 rs1444251270 0.2789 None gnomAD-2.1.1 3.18E-05
9087 69 G/E 152 rs1444251270 0.2789 None gnomAD-4.0.0 1.59131E-06
9087 69 G/R 152 None 0.2789 None gnomAD-4.0.0 1.20032E-06
9089 71 Y/H 154 rs794729633 0.1175 None gnomAD-2.1.1 4.03E-06
9089 71 Y/H 154 rs794729633 0.1175 None gnomAD-4.0.0 1.16316E-05
9090 72 T/I 155 None 0.1900 None gnomAD-4.0.0 4.77376E-06
9091 73 C/W 156 rs375546576 0.0621 None gnomAD-2.1.1 4.03E-06
9091 73 C/W 156 rs375546576 0.0621 None gnomAD-4.0.0 6.84212E-07
9092 74 I/R 157 None 0.2447 None gnomAD-4.0.0 3.42104E-06
9092 74 I/V 157 rs1222539429 0.2447 None gnomAD-2.1.1 4.03E-06
9092 74 I/V 157 rs1222539429 0.2447 None gnomAD-4.0.0 8.21051E-06
9094 76 S/G 159 rs768623560 0.1773 None gnomAD-2.1.1 1.79E-05
9094 76 S/G 159 rs768623560 0.1773 None gnomAD-3.1.2 6.57E-06
9094 76 S/G 159 rs768623560 0.1773 None gnomAD-4.0.0 5.12397E-06
9094 76 S/I 159 None 0.1773 None gnomAD-4.0.0 1.59136E-06
9094 76 S/N 159 rs1256219559 0.1773 None gnomAD-2.1.1 4.03E-06
9094 76 S/N 159 rs1256219559 0.1773 None gnomAD-4.0.0 1.59136E-06
9095 77 N/D 161 None 0.1741 None gnomAD-4.0.0 1.20032E-06
9095 77 N/S 161 rs1319823465 0.1741 None gnomAD-2.1.1 4.03E-06
9096 78 E/D 162 rs775382008 1.0825 None gnomAD-2.1.1 4.03E-06
9096 78 E/D 162 rs775382008 1.0825 None gnomAD-4.0.0 1.59138E-06
9098 80 G/A 164 None 0.2417 None gnomAD-4.0.0 6.8425E-07
9098 80 G/S 164 rs772115815 0.2417 None gnomAD-2.1.1 1.21E-05
9098 80 G/S 164 rs772115815 0.2417 None gnomAD-4.0.0 3.18288E-06
9098 80 G/V 164 None 0.2417 None gnomAD-4.0.0 6.8425E-07
9099 81 K/N 165 None 0.6811 None gnomAD-4.0.0 1.20032E-06
9100 82 A/S 166 rs746094812 0.1709 None gnomAD-2.1.1 2.82E-05
9100 82 A/S 166 rs746094812 0.1709 None gnomAD-3.1.2 6.57E-06
9100 82 A/S 166 rs746094812 0.1709 None gnomAD-4.0.0 1.48737E-05
9102 84 C/F 169 None 0.1016 None gnomAD-4.0.0 6.84289E-07
9102 84 C/R 169 None 0.1016 None gnomAD-4.0.0 8.21118E-06
9102 84 C/S 169 None 0.1016 None gnomAD-4.0.0 6.84289E-07
9102 84 C/Y 169 rs779332931 0.1016 None gnomAD-2.1.1 4.03E-06
9102 84 C/Y 169 rs779332931 0.1016 None gnomAD-4.0.0 1.36858E-06
9103 85 T/A 171 rs1351836200 0.3929 None gnomAD-3.1.2 1.31E-05
9103 85 T/A 171 rs1351836200 0.3929 None gnomAD-4.0.0 1.31401E-05
9104 86 T/I 172 rs2076843067 0.0972 None gnomAD-3.1.2 1.31E-05
9104 86 T/I 172 rs2076843067 0.0972 None gnomAD-4.0.0 3.04477E-06
9105 87 H/R 173 None 0.4562 None gnomAD-4.0.0 1.20032E-06
9105 87 H/Y 173 rs771109303 0.4562 None gnomAD-2.1.1 8.07E-06
9105 87 H/Y 173 rs771109303 0.4562 None gnomAD-3.1.2 1.31E-05
9105 87 H/Y 173 rs771109303 0.4562 None gnomAD-4.0.0 8.97128E-06
9106 88 L/F 174 None 0.1073 None gnomAD-4.0.0 6.84436E-07
9106 88 L/P 174 rs915079612 0.1073 None gnomAD-3.1.2 6.57E-06
9106 88 L/P 174 rs915079612 0.1073 None gnomAD-4.0.0 6.56927E-06
9106 88 L/R 174 None 0.1073 None gnomAD-4.0.0 1.20032E-06
9106 88 L/V 174 None 0.1073 None gnomAD-4.0.0 6.84436E-07
9107 89 Y/C 175 None 0.5871 None gnomAD-4.0.0 1.59375E-06
9108 90 I/L 177 None 0.0896 None gnomAD-4.0.0 1.59439E-06