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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8171 1 A/V 1 rs755340155 0.1192 None gnomAD-2.1.1 7.17E-06
8171 1 A/V 1 rs755340155 0.1192 None gnomAD-3.1.2 1.97E-05
8171 1 A/V 1 rs755340155 0.1192 None gnomAD-4.0.0 4.05981E-06
8172 2 T/S 2 None 0.4997 None gnomAD-4.0.0 2.74036E-06
8174 4 V/M 4 rs727504961 0.5849 None gnomAD-3.1.2 6.57E-06
8174 4 V/M 4 rs727504961 0.5849 None gnomAD-4.0.0 3.10159E-06
8176 6 R/I 7 None 0.3237 None gnomAD-4.0.0 1.20032E-06
8176 6 R/S 7 rs1162009739 0.3237 None gnomAD-2.1.1 3.18E-05
8176 6 R/S 7 rs1162009739 0.3237 None gnomAD-3.1.2 6.57E-06
8176 6 R/S 7 rs1162009739 0.3237 None gnomAD-4.0.0 6.57151E-06
8176 6 R/T 7 None 0.3237 None gnomAD-4.0.0 1.20032E-06
8177 7 L/W 8 None 0.2212 None gnomAD-4.0.0 1.59417E-06
8178 8 A/S 9 rs1164648572 0.6090 None gnomAD-2.1.1 4.04E-06
8178 8 A/S 9 rs1164648572 0.6090 None gnomAD-4.0.0 3.18901E-06
8178 8 A/V 9 None 0.6090 None gnomAD-4.0.0 6.16271E-06
8179 9 D/N 11 rs756975386 0.6487 None gnomAD-2.1.1 8.07E-06
8179 9 D/N 11 rs756975386 0.6487 None gnomAD-4.0.0 1.3695E-05
8180 10 F/S 13 None 0.3106 None gnomAD-4.0.0 1.59299E-06
8181 11 S/G 14 rs753248001 0.4046 None gnomAD-2.1.1 4.03E-06
8181 11 S/G 14 rs753248001 0.4046 None gnomAD-4.0.0 5.47604E-06
8181 11 S/I 14 rs2077848883 0.4046 None gnomAD-4.0.0 6.84507E-07
8181 11 S/R 14 rs753248001 0.4046 None gnomAD-2.1.1 8.06E-06
8181 11 S/R 14 rs753248001 0.4046 None gnomAD-4.0.0 1.36901E-06
8182 12 V/A 16 None 0.1136 None gnomAD-4.0.0 1.20032E-06
8183 13 E/D 18 None 0.4816 None gnomAD-4.0.0 2.05312E-06
8183 13 E/Q 18 rs201365398 0.4816 None gnomAD-2.1.1 9.66E-05
8183 13 E/Q 18 rs201365398 0.4816 None gnomAD-3.1.2 3.29E-05
8183 13 E/Q 18 rs201365398 0.4816 None 1000 genomes 1.99681E-04
8183 13 E/Q 18 rs201365398 0.4816 None gnomAD-4.0.0 5.45413E-05
8185 15 G/E 24 rs1199728726 0.2713 None gnomAD-4.0.0 1.02647E-05
8185 15 G/R 24 None 0.2713 None gnomAD-4.0.0 1.59183E-06
8187 17 P/R 26 rs1417467243 0.4775 None gnomAD-2.1.1 8.06E-06
8187 17 P/R 26 rs1417467243 0.4775 None gnomAD-4.0.0 4.77506E-06
8187 17 P/S 26 None 0.4775 None gnomAD-4.0.0 1.59169E-06
8188 18 I/M 28 rs563728001 0.1034 None gnomAD-2.1.1 1.21E-05
8188 18 I/M 28 rs563728001 0.1034 None gnomAD-3.1.2 1.97E-05
8188 18 I/M 28 rs563728001 0.1034 None 1000 genomes 1.99681E-04
8188 18 I/M 28 rs563728001 0.1034 None gnomAD-4.0.0 1.36333E-05
8188 18 I/T 28 rs1184649078 0.1034 None gnomAD-2.1.1 4.03E-06
8188 18 I/T 28 rs1184649078 0.1034 None gnomAD-3.1.2 6.57E-06
8188 18 I/T 28 rs1184649078 0.1034 None gnomAD-4.0.0 3.09872E-06
8191 21 E/G 31 None 0.4929 None gnomAD-4.0.0 1.20032E-06
8191 21 E/K 31 rs201326258 0.4929 None gnomAD-2.1.1 3.22E-05
8191 21 E/K 31 rs201326258 0.4929 None gnomAD-3.1.2 3.94E-05
8191 21 E/K 31 rs201326258 0.4929 None gnomAD-4.0.0 1.67332E-05
8191 21 E/Q 31 None 0.4929 None gnomAD-4.0.0 1.36851E-06
8192 22 A/S 33 rs2077844059 0.0957 None gnomAD-4.0.0 1.5915E-06
8193 23 T/A 34 rs774247592 0.2269 None gnomAD-2.1.1 4.03E-06
8193 23 T/A 34 rs774247592 0.2269 None gnomAD-3.1.2 6.57E-06
8193 23 T/A 34 rs774247592 0.2269 None gnomAD-4.0.0 1.02488E-05
8193 23 T/I 34 None 0.2269 None gnomAD-4.0.0 1.59148E-06
8194 24 Y/H 35 rs763264570 0.0869 None gnomAD-2.1.1 4.03E-06
8194 24 Y/H 35 rs763264570 0.0869 None gnomAD-4.0.0 1.59144E-06
8195 25 T/A 38 rs773225442 0.5461 None gnomAD-2.1.1 4.03E-06
8195 25 T/A 38 rs773225442 0.5461 None gnomAD-4.0.0 1.59143E-06
8195 25 T/I 38 rs769875081 0.5461 None gnomAD-2.1.1 4.03E-06
8195 25 T/I 38 rs769875081 0.5461 None gnomAD-4.0.0 6.84241E-07
8195 25 T/S 38 rs769875081 0.5461 None gnomAD-3.1.2 6.57E-06
8195 25 T/S 38 rs769875081 0.5461 None gnomAD-4.0.0 6.57194E-06
8197 27 T/I 41 rs748587371 0.8264 None gnomAD-2.1.1 8.06E-06
8197 27 T/I 41 rs748587371 0.8264 None gnomAD-4.0.0 8.21081E-06
8197 27 T/K 41 rs748587371 0.8264 None gnomAD-2.1.1 4.03E-06
8199 29 P/S 43 rs1438804317 0.8153 None gnomAD-3.1.2 1.97E-05
8199 29 P/S 43 rs1438804317 0.8153 None gnomAD-4.0.0 4.33807E-06
8200 30 I/M 44 rs2077838172 0.1496 None gnomAD-3.1.2 6.57E-06
8200 30 I/M 44 rs2077838172 0.1496 None gnomAD-4.0.0 3.04487E-06
8200 30 I/T 44 rs2077838539 0.1496 None gnomAD-3.1.2 6.57E-06
8200 30 I/T 44 rs2077838539 0.1496 None gnomAD-4.0.0 6.57168E-06
8200 30 I/V 44 rs1439095726 0.1496 None gnomAD-2.1.1 4.03E-06
8200 30 I/V 44 rs1439095726 0.1496 None gnomAD-4.0.0 1.59144E-06
8201 31 S/P 45 rs1397176546 0.3753 None gnomAD-2.1.1 4.03E-06
8203 33 S/N 47 None 0.3812 None gnomAD-4.0.0 1.20032E-06
8203 33 S/R 47 None 0.3812 None gnomAD-4.0.0 1.59154E-06
8205 35 I/K 49 rs780500830 0.2226 None gnomAD-2.1.1 8.05E-06
8205 35 I/K 49 rs780500830 0.2226 None gnomAD-4.0.0 1.20032E-06
8205 35 I/V 49 rs747306219 0.2226 None gnomAD-2.1.1 4.03E-06
8205 35 I/V 49 rs747306219 0.2226 None gnomAD-3.1.2 6.57E-06
8205 35 I/V 49 rs747306219 0.2226 None gnomAD-4.0.0 3.09865E-06
8206 36 K/N 50 rs2154299557 0.1623 None gnomAD-3.1.2 6.57E-06
8206 36 K/N 50 rs2154299557 0.1623 None gnomAD-4.0.0 1.31382E-05
8207 37 D/E 51 rs751733811 0.4024 None gnomAD-2.1.1 1.21E-05
8207 37 D/E 51 rs751733811 0.4024 None gnomAD-4.0.0 2.73696E-06
8207 37 D/N 51 rs756813056 0.4024 None gnomAD-2.1.1 3.22E-05
8207 37 D/N 51 rs756813056 0.4024 None gnomAD-3.1.2 5.26E-05
8207 37 D/N 51 rs756813056 0.4024 None gnomAD-4.0.0 1.30143E-05
8207 37 D/Y 51 None 0.4024 None gnomAD-4.0.0 1.36849E-06
8208 38 E/K 52 rs190192954 0.7239 None gnomAD-2.1.1 5.72E-05
8208 38 E/K 52 rs190192954 0.7239 None gnomAD-3.1.2 1.44645E-04
8208 38 E/K 52 rs190192954 0.7239 None 1000 genomes 1.99681E-04
8208 38 E/K 52 rs190192954 0.7239 None gnomAD-4.0.0 3.16047E-05
8210 40 L/R 56 None 0.6837 None gnomAD-4.0.0 1.59139E-06
8213 43 Q/H 70 rs397517510 0.4462 None gnomAD-2.1.1 3.57E-05
8213 43 Q/H 70 rs397517510 0.4462 None gnomAD-3.1.2 8.55E-05
8213 43 Q/H 70 rs397517510 0.4462 None gnomAD-4.0.0 1.05974E-04
8213 43 Q/K 70 None 0.4462 None gnomAD-4.0.0 2.40064E-06
8215 45 E/G 102 None 0.9497 None gnomAD-4.0.0 1.59133E-06
8215 45 E/K 102 rs2077831957 0.9497 None gnomAD-3.1.2 6.57E-06
8215 45 E/K 102 rs2077831957 0.9497 None gnomAD-4.0.0 2.56239E-06
8216 46 R/K 115 rs561781856 0.4513 None gnomAD-3.1.2 6.57E-06
8216 46 R/K 115 rs561781856 0.4513 None 1000 genomes 1.99681E-04
8216 46 R/K 115 rs561781856 0.4513 None gnomAD-4.0.0 2.56192E-06
8216 46 R/S 115 None 0.4513 None gnomAD-4.0.0 6.84222E-07
8217 47 C/R 121 None 0.1508 None gnomAD-4.0.0 1.59134E-06
8218 48 S/G 122 rs72648980 0.3031 None gnomAD-2.1.1 8.46876E-04
8218 48 S/G 122 rs72648980 0.3031 None gnomAD-3.1.2 2.46435E-03
8218 48 S/G 122 rs72648980 0.3031 None 1000 genomes 1.59744E-03
8218 48 S/G 122 rs72648980 0.3031 None gnomAD-4.0.0 4.64121E-04
8218 48 S/N 122 rs1205977275 0.3031 None gnomAD-2.1.1 4.02E-06
8218 48 S/N 122 rs1205977275 0.3031 None gnomAD-4.0.0 3.18274E-06
8219 49 I/T 123 None 0.2360 None gnomAD-4.0.0 1.59135E-06
8219 49 I/V 123 rs766216038 0.2360 None gnomAD-2.1.1 4.02E-06
8219 49 I/V 123 rs766216038 0.2360 None gnomAD-4.0.0 3.18271E-06
8220 50 T/A 125 rs763026119 0.5602 None gnomAD-2.1.1 8.05E-06
8220 50 T/A 125 rs763026119 0.5602 None gnomAD-4.0.0 6.36541E-06
8221 51 M/I 127 rs773426185 0.4330 None gnomAD-2.1.1 4.02E-06
8221 51 M/I 127 rs773426185 0.4330 None gnomAD-4.0.0 1.59135E-06
8221 51 M/K 127 rs1290574317 0.4330 None gnomAD-4.0.0 6.84222E-07
8221 51 M/T 127 None 0.4330 None gnomAD-4.0.0 6.84222E-07
8221 51 M/V 127 None 0.4330 None gnomAD-4.0.0 2.05266E-06
8222 52 T/I 130 None 0.3532 None gnomAD-4.0.0 6.84228E-07
8222 52 T/R 130 None 0.3532 None gnomAD-4.0.0 6.84228E-07
8224 54 K/E 134 rs1373569910 0.6900 None gnomAD-4.0.0 1.59135E-06
8225 55 S/F 135 None 0.1785 None gnomAD-4.0.0 1.20032E-06
8226 56 T/A 136 None 0.1134 None gnomAD-4.0.0 1.59136E-06
8226 56 T/I 136 rs1391244402 0.1134 None gnomAD-2.1.1 1.21E-05
8226 56 T/I 136 rs1391244402 0.1134 None gnomAD-3.1.2 3.94E-05
8226 56 T/I 136 rs1391244402 0.1134 None gnomAD-4.0.0 1.15313E-05
8226 56 T/N 136 None 0.1134 None gnomAD-2.1.1 4.02E-06
8226 56 T/N 136 None 0.1134 None gnomAD-4.0.0 6.36551E-06
8227 57 I/M 137 rs1300167182 0.3234 None gnomAD-2.1.1 1.21E-05
8227 57 I/M 137 rs1300167182 0.3234 None gnomAD-3.1.2 1.97E-05
8227 57 I/M 137 rs1300167182 0.3234 None gnomAD-4.0.0 8.67628E-06
8229 59 E/D 139 rs761867872 0.4992 None gnomAD-2.1.1 4.02E-06
8229 59 E/D 139 rs761867872 0.4992 None gnomAD-4.0.0 6.84215E-07
8229 59 E/K 139 None 0.4992 None gnomAD-4.0.0 1.59132E-06
8230 60 I/V 140 None 0.1430 None gnomAD-4.0.0 1.5913E-06
8231 61 L/P 141 rs373723384 0.5974 None gnomAD-2.1.1 8.05E-06
8231 61 L/P 141 rs373723384 0.5974 None gnomAD-3.1.2 6.57E-06
8231 61 L/P 141 rs373723384 0.5974 None 1000 genomes 1.99681E-04
8231 61 L/P 141 rs373723384 0.5974 None gnomAD-4.0.0 2.5618E-06
8232 62 E/G 143 None 0.7846 None gnomAD-4.0.0 4.80129E-06
8232 62 E/Q 143 None 0.7846 None gnomAD-4.0.0 1.20032E-06
8233 63 S/N 144 None 0.1151 None gnomAD-4.0.0 6.84224E-07
8234 64 T/A 145 rs747575161 0.2981 None gnomAD-2.1.1 4.02E-06
8234 64 T/A 145 rs747575161 0.2981 None gnomAD-4.0.0 2.73688E-06
8234 64 T/I 145 rs369521909 0.2981 None gnomAD-2.1.1 2.41E-05
8234 64 T/I 145 rs369521909 0.2981 None gnomAD-3.1.2 2.63E-05
8234 64 T/I 145 rs369521909 0.2981 None gnomAD-4.0.0 2.10706E-05
8234 64 T/K 145 None 0.2981 None gnomAD-4.0.0 6.84229E-07
8235 65 I/M 146 None 0.7575 None gnomAD-4.0.0 1.5913E-06
8235 65 I/R 146 None 0.7575 None gnomAD-4.0.0 1.59134E-06
8235 65 I/V 146 rs772492248 0.7575 None gnomAD-2.1.1 1.61E-05
8235 65 I/V 146 rs772492248 0.7575 None gnomAD-4.0.0 3.42108E-06
8236 66 E/K 148 rs377762626 0.7284 None gnomAD-2.1.1 2.41E-05
8236 66 E/K 148 rs377762626 0.7284 None gnomAD-3.1.2 6.57E-06
8236 66 E/K 148 rs377762626 0.7284 None 1000 genomes 1.99681E-04
8236 66 E/K 148 rs377762626 0.7284 None gnomAD-4.0.0 1.09475E-05
8238 68 Y/C 151 rs202193812 0.5803 None gnomAD-2.1.1 4.02E-06
8238 68 Y/C 151 rs202193812 0.5803 None gnomAD-3.1.2 6.57E-06
8238 68 Y/C 151 rs202193812 0.5803 None gnomAD-4.0.0 1.23938E-06
8238 68 Y/F 151 rs202193812 0.5803 None gnomAD-4.0.0 1.36844E-06
8239 69 A/T 152 rs2077819913 0.0828 None gnomAD-3.1.2 6.57E-06
8239 69 A/T 152 rs2077819913 0.0828 None gnomAD-4.0.0 2.02985E-06
8240 70 Q/H 153 rs1350676942 0.2194 None gnomAD-4.0.0 6.84224E-07
8240 70 Q/R 153 rs747625896 0.2194 None gnomAD-2.1.1 2.01E-05
8240 70 Q/R 153 rs747625896 0.2194 None gnomAD-4.0.0 1.27308E-05
8242 72 S/G 155 rs754820566 0.1461 None gnomAD-2.1.1 4.02E-06
8242 72 S/G 155 rs754820566 0.1461 None gnomAD-4.0.0 6.84221E-07
8242 72 S/N 155 None 0.1461 None gnomAD-4.0.0 1.20032E-06
8242 72 S/R 155 None 0.1461 None gnomAD-4.0.0 6.84221E-07
8245 75 I/M 158 None 0.0471 None gnomAD-4.0.0 1.5914E-06
8245 75 I/T 158 rs1309374626 0.0471 None gnomAD-2.1.1 4.02E-06
8245 75 I/T 158 rs1309374626 0.0471 None gnomAD-4.0.0 1.59141E-06
8245 75 I/V 158 None 0.0471 None gnomAD-4.0.0 1.20032E-06
8246 76 E/K 159 rs578260569 0.4449 None gnomAD-2.1.1 3.22E-05
8246 76 E/K 159 rs578260569 0.4449 None gnomAD-3.1.2 6.57E-06
8246 76 E/K 159 rs578260569 0.4449 None 1000 genomes 1.99681E-04
8246 76 E/K 159 rs578260569 0.4449 None gnomAD-4.0.0 1.67307E-05
8247 77 N/S 161 rs1423015364 0.1516 None gnomAD-4.0.0 3.18289E-06
8249 79 A/D 163 None 0.6213 None gnomAD-4.0.0 1.59151E-06
8249 79 A/S 163 None 0.6213 None gnomAD-4.0.0 6.84258E-07
8249 79 A/T 163 None 0.6213 None gnomAD-4.0.0 6.84258E-07
8250 80 G/A 164 rs1311136102 0.2783 None gnomAD-2.1.1 7.15E-06
8250 80 G/A 164 rs1311136102 0.2783 None gnomAD-3.1.2 6.57E-06
8250 80 G/A 164 rs1311136102 0.2783 None gnomAD-4.0.0 3.84371E-06
8251 81 Q/H 165 rs1377167368 0.6862 None gnomAD-2.1.1 4.03E-06
8251 81 Q/H 165 rs1377167368 0.6862 None gnomAD-4.0.0 3.42136E-06
8252 82 D/A 166 rs762054067 0.1635 None gnomAD-4.0.0 6.84275E-07
8252 82 D/E 166 rs764248656 0.1635 None gnomAD-2.1.1 1.50167E-04
8252 82 D/E 166 rs764248656 0.1635 None gnomAD-3.1.2 7.23E-05
8252 82 D/E 166 rs764248656 0.1635 None gnomAD-4.0.0 4.21391E-05
8252 82 D/G 166 rs762054067 0.1635 None gnomAD-2.1.1 4.03E-06
8252 82 D/G 166 rs762054067 0.1635 None gnomAD-4.0.0 6.84275E-07
8252 82 D/H 166 rs1173109154 0.1635 None gnomAD-2.1.1 7.15E-06
8252 82 D/H 166 rs1173109154 0.1635 None gnomAD-3.1.2 6.57E-06
8252 82 D/H 166 rs1173109154 0.1635 None gnomAD-4.0.0 1.85926E-06
8252 82 D/V 166 None 0.1635 None gnomAD-4.0.0 6.84275E-07
8253 83 I/T 168 rs376588656 0.3951 None gnomAD-2.1.1 4.03E-06
8253 83 I/T 168 rs376588656 0.3951 None gnomAD-4.0.0 1.59175E-06
8254 84 C/G 169 None 0.0688 None gnomAD-4.0.0 1.20032E-06
8254 84 C/S 169 rs776063057 0.0688 None gnomAD-2.1.1 8.06E-06
8254 84 C/S 169 rs776063057 0.0688 None gnomAD-4.0.0 7.5276E-06
8255 85 E/A 171 rs794727943 0.4312 None gnomAD-2.1.1 4.03E-06
8256 86 A/T 172 rs772515770 0.1032 None gnomAD-2.1.1 4.03E-06
8256 86 A/T 172 rs772515770 0.1032 None gnomAD-4.0.0 1.59221E-06
8256 86 A/V 172 rs879112949 0.1032 None gnomAD-4.0.0 1.59218E-06
8257 87 L/V 173 rs371322658 0.3176 None gnomAD-2.1.1 2.86E-05
8257 87 L/V 173 rs371322658 0.3176 None gnomAD-3.1.2 3.94E-05
8257 87 L/V 173 rs371322658 0.3176 None gnomAD-4.0.0 3.09921E-05
8258 88 V/L 174 None 0.0911 None gnomAD-4.0.0 6.84451E-07
8258 88 V/M 174 None 0.0911 None gnomAD-4.0.0 1.3689E-06
8259 89 S/F 175 None 0.2205 None gnomAD-4.0.0 6.84578E-07
8259 89 S/Y 175 rs868000266 0.2205 None gnomAD-4.0.0 8.89951E-06
8260 90 V/A 177 None 0.1543 None gnomAD-4.0.0 1.20032E-06