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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26193 1 I/L 1 rs727505241 0.3592 None gnomAD-2.1.1 8.16E-06
26193 1 I/L 1 rs727505241 0.3592 None gnomAD-3.1.2 6.57E-06
26193 1 I/L 1 rs727505241 0.3592 None gnomAD-4.0.0 9.94007E-06
26195 3 M/V 3 rs369118365 0.1728 None gnomAD-2.1.1 2.53E-05
26195 3 M/V 3 rs369118365 0.1728 None gnomAD-3.1.2 2.63E-05
26195 3 M/V 3 rs369118365 0.1728 None gnomAD-4.0.0 1.49076E-05
26196 4 D/E 4 None 0.2900 None gnomAD-4.0.0 1.20032E-06
26196 4 D/G 4 None 0.2900 None gnomAD-4.0.0 1.20032E-06
26196 4 D/H 4 rs777065318 0.2900 None gnomAD-3.1.2 1.32E-05
26196 4 D/H 4 rs777065318 0.2900 None gnomAD-4.0.0 1.49085E-05
26196 4 D/N 4 rs777065318 0.2900 None gnomAD-2.1.1 4.08E-06
26196 4 D/N 4 rs777065318 0.2900 None gnomAD-4.0.0 6.85989E-07
26197 5 P/A 5 rs747052899 0.5668 None gnomAD-4.0.0 3.42842E-06
26197 5 P/T 5 rs747052899 0.5668 None gnomAD-2.1.1 4.08E-06
26197 5 P/T 5 rs747052899 0.5668 None gnomAD-3.1.2 2.63E-05
26197 5 P/T 5 rs747052899 0.5668 None gnomAD-4.0.0 5.58866E-06
26202 10 T/I 11 None 0.4820 None gnomAD-4.0.0 3.42548E-06
26202 10 T/P 11 rs1364192252 0.4820 None gnomAD-2.1.1 4.06E-06
26202 10 T/P 11 rs1364192252 0.4820 None gnomAD-4.0.0 2.05572E-06
26203 11 I/T 13 rs766839297 0.2382 None gnomAD-4.0.0 1.59545E-06
26204 12 V/M 14 None 0.4839 None gnomAD-4.0.0 2.74056E-06
26205 13 V/A 16 rs398124456 0.1435 None gnomAD-4.0.0 1.59498E-06
26205 13 V/G 16 None 0.1435 None gnomAD-4.0.0 1.59498E-06
26206 14 N/S 18 rs1400612460 0.4556 None gnomAD-2.1.1 4.05E-06
26206 14 N/S 18 rs1400612460 0.4556 None gnomAD-4.0.0 1.59447E-06
26207 15 A/T 23 None 0.3606 None gnomAD-4.0.0 1.59445E-06
26208 16 G/E 24 rs778591122 0.3555 None gnomAD-2.1.1 4.04E-06
26208 16 G/E 24 rs778591122 0.3555 None gnomAD-4.0.0 1.59403E-06
26208 16 G/R 24 None 0.3555 None gnomAD-4.0.0 1.59412E-06
26210 18 T/I 26 None 0.3919 None gnomAD-4.0.0 6.84563E-07
26210 18 T/K 26 rs879021950 0.3919 None gnomAD-2.1.1 3.19E-05
26210 18 T/K 26 rs879021950 0.3919 None gnomAD-3.1.2 1.31E-05
26210 18 T/K 26 rs879021950 0.3919 None gnomAD-4.0.0 2.48003E-06
26212 20 R/S 29 rs756880931 0.6209 None gnomAD-4.0.0 6.84549E-07
26212 20 R/T 29 rs11685237 0.6209 None gnomAD-3.1.2 6.58E-06
26212 20 R/T 29 rs11685237 0.6209 None gnomAD-4.0.0 6.5754E-06
26213 21 L/F 30 rs1553594441 0.1238 None gnomAD-4.0.0 6.84532E-06
26213 21 L/P 30 rs2154166338 0.1238 None gnomAD-3.1.2 6.57E-06
26213 21 L/P 30 rs2154166338 0.1238 None gnomAD-4.0.0 2.56412E-06
26214 22 E/K 31 rs944710014 0.4775 None gnomAD-2.1.1 4.03E-06
26214 22 E/K 31 rs944710014 0.4775 None gnomAD-3.1.2 2.63E-05
26214 22 E/K 31 rs944710014 0.4775 None gnomAD-4.0.0 4.33978E-06
26216 24 D/V 34 None 0.4149 None gnomAD-4.0.0 1.5929E-06
26217 25 V/A 35 rs748869015 0.1573 None gnomAD-2.1.1 4.03E-06
26217 25 V/A 35 rs748869015 0.1573 None gnomAD-4.0.0 1.59286E-06
26221 29 P/L 42 rs912454417 0.5216 None gnomAD-3.1.2 1.97E-05
26221 29 P/L 42 rs912454417 0.5216 None gnomAD-4.0.0 3.71991E-06
26221 29 P/R 42 None 0.5216 None gnomAD-4.0.0 2.05348E-06
26221 29 P/T 42 rs1421106206 0.5216 None gnomAD-4.0.0 4.10706E-06
26222 30 L/R 43 rs1470470841 0.4666 None gnomAD-3.1.2 1.32E-05
26222 30 L/R 43 rs1470470841 0.4666 None gnomAD-4.0.0 1.31524E-05
26223 31 P/H 44 rs1706322297 0.1903 None gnomAD-4.0.0 1.59279E-06
26223 31 P/S 44 rs777105534 0.1903 None gnomAD-2.1.1 1.21E-05
26223 31 P/S 44 rs777105534 0.1903 None gnomAD-3.1.2 6.58E-06
26223 31 P/S 44 rs777105534 0.1903 None gnomAD-4.0.0 6.81938E-06
26224 32 T/A 45 rs1480422530 0.6699 None gnomAD-2.1.1 4.03E-06
26224 32 T/A 45 rs1480422530 0.6699 None gnomAD-4.0.0 6.84535E-07
26224 32 T/I 45 rs756093359 0.6699 None gnomAD-2.1.1 4.03E-06
26224 32 T/I 45 rs756093359 0.6699 None gnomAD-4.0.0 1.59296E-06
26225 33 I/M 46 None 0.2186 None gnomAD-4.0.0 1.20033E-06
26225 33 I/N 46 None 0.2186 None gnomAD-4.0.0 6.8458E-07
26225 33 I/T 46 rs12463674 0.2186 None gnomAD-2.1.1 2.34287E-01
26225 33 I/T 46 rs12463674 0.2186 None gnomAD-3.1.2 2.14052E-01
26225 33 I/T 46 rs12463674 0.2186 None 1000 genomes 1.29992E-01
26225 33 I/T 46 rs12463674 0.2186 None gnomAD-4.0.0 2.78864E-01
26226 34 E/D 47 rs1251054791 0.2482 None gnomAD-2.1.1 8.06E-06
26226 34 E/D 47 rs1251054791 0.2482 None gnomAD-4.0.0 2.05362E-06
26226 34 E/K 47 rs754878387 0.2482 None gnomAD-2.1.1 5.01E-05
26226 34 E/K 47 rs754878387 0.2482 None gnomAD-3.1.2 1.32E-05
26226 34 E/K 47 rs754878387 0.2482 None gnomAD-4.0.0 1.98402E-05
26226 34 E/Q 47 rs754878387 0.2482 None gnomAD-2.1.1 6.8E-05
26226 34 E/Q 47 rs754878387 0.2482 None gnomAD-3.1.2 5.26E-05
26226 34 E/Q 47 rs754878387 0.2482 None gnomAD-4.0.0 4.15375E-05
26227 35 W/L 48 rs1706315809 0.1501 None gnomAD-3.1.2 1.32E-05
26227 35 W/L 48 rs1706315809 0.1501 None gnomAD-4.0.0 1.31539E-05
26229 37 R/G 50 None 0.3145 None gnomAD-4.0.0 1.59352E-06
26229 37 R/K 50 rs751381334 0.3145 None gnomAD-2.1.1 4.03E-06
26229 37 R/K 50 rs751381334 0.3145 None gnomAD-3.1.2 6.57E-06
26229 37 R/K 50 rs751381334 0.3145 None gnomAD-4.0.0 6.57454E-06
26229 37 R/T 50 None 0.3145 None gnomAD-4.0.0 1.20033E-06
26230 38 G/V 51 None 0.3029 None gnomAD-4.0.0 1.20032E-06
26233 41 E/K 56 rs267599036 0.7300 None gnomAD-2.1.1 4.07E-06
26233 41 E/K 56 rs267599036 0.7300 None gnomAD-4.0.0 1.60051E-06
26234 42 I/T 58 None 0.2293 None gnomAD-4.0.0 1.6032E-06
26234 42 I/V 58 None 0.2293 None gnomAD-4.0.0 1.60302E-06
26235 43 E/Q 69 rs1695984178 0.9492 None gnomAD-3.1.2 1.97E-05
26235 43 E/Q 69 rs1695984178 0.9492 None gnomAD-4.0.0 1.97254E-05
26237 45 S/F 73 rs1706305589 0.3604 None gnomAD-4.0.0 1.60647E-06
26240 48 C/Y 121 rs1575695077 0.1795 None gnomAD-3.1.2 6.57E-06
26240 48 C/Y 121 rs1575695077 0.1795 None gnomAD-4.0.0 3.11452E-06
26241 49 E/G 122 None 0.3209 None gnomAD-4.0.0 6.88882E-07
26242 50 I/T 123 None 0.2305 None gnomAD-4.0.0 1.20032E-06
26242 50 I/V 123 rs750748102 0.2305 None gnomAD-4.0.0 1.61667E-06
26243 51 K/E 125 rs1372864085 0.4858 None gnomAD-4.0.0 3.44556E-06
26243 51 K/M 125 rs763231010 0.4858 None gnomAD-2.1.1 4.17E-06
26243 51 K/M 125 rs763231010 0.4858 None gnomAD-4.0.0 1.61782E-06
26244 52 N/D 127 None 0.3292 None gnomAD-4.0.0 6.89519E-07
26244 52 N/H 127 None 0.3292 None gnomAD-4.0.0 6.89519E-07
26244 52 N/S 127 None 0.3292 None gnomAD-4.0.0 3.24203E-06
26246 54 D/N 131 rs866667558 0.6353 None gnomAD-4.0.0 1.20032E-06
26248 56 K/Q 135 rs1281337813 0.3567 None gnomAD-2.1.1 4.23E-06
26248 56 K/Q 135 rs1281337813 0.3567 None gnomAD-4.0.0 2.76372E-06
26249 57 A/T 136 None 0.0926 None gnomAD-4.0.0 1.63133E-06
26252 60 I/T 139 None 0.1661 None gnomAD-4.0.0 4.85157E-06
26255 63 D/H 143 None 0.6446 None gnomAD-4.0.0 1.38675E-06
26255 63 D/N 143 rs1368108260 0.6446 None gnomAD-2.1.1 8.7E-06
26255 63 D/N 143 rs1368108260 0.6446 None gnomAD-4.0.0 1.38675E-06
26256 64 A/G 144 None 0.1073 None gnomAD-4.0.0 6.93041E-07
26256 64 A/P 144 rs765170810 0.1073 None gnomAD-3.1.2 6.57E-06
26256 64 A/P 144 rs765170810 0.1073 None gnomAD-4.0.0 6.57402E-06
26256 64 A/T 144 rs765170810 0.1073 None gnomAD-3.1.2 6.57E-06
26256 64 A/T 144 rs765170810 0.1073 None gnomAD-4.0.0 3.93976E-06
26257 65 I/V 145 rs537603440 0.3270 None gnomAD-2.1.1 5.65E-05
26257 65 I/V 145 rs537603440 0.3270 None gnomAD-3.1.2 1.31E-05
26257 65 I/V 145 rs537603440 0.3270 None 1000 genomes None
26257 65 I/V 145 rs537603440 0.3270 None gnomAD-4.0.0 1.12817E-05
26260 68 D/N 149 None 0.1666 None gnomAD-4.0.0 1.63483E-06
26260 68 D/V 149 rs1221038194 0.1666 None gnomAD-4.0.0 1.38395E-06
26261 69 G/C 151 rs1179223519 0.3144 None gnomAD-2.1.1 4.33E-06
26261 69 G/C 151 rs1179223519 0.3144 None gnomAD-3.1.2 1.32E-05
26261 69 G/C 151 rs1179223519 0.3144 None gnomAD-4.0.0 3.92673E-06
26261 69 G/D 151 None 0.3144 None gnomAD-4.0.0 4.84215E-06
26262 70 G/E 152 rs775800532 0.3374 None gnomAD-2.1.1 4.28E-06
26262 70 G/E 152 rs775800532 0.3374 None gnomAD-4.0.0 6.91331E-07
26262 70 G/R 152 rs794729290 0.3374 None gnomAD-2.1.1 8.57E-06
26262 70 G/R 152 rs794729290 0.3374 None gnomAD-4.0.0 3.45716E-06
26262 70 G/V 152 None 0.3374 None gnomAD-4.0.0 6.91331E-07
26263 71 Q/E 153 None 0.3938 None gnomAD-4.0.0 2.07367E-06
26263 71 Q/H 153 rs770600641 0.3938 None gnomAD-2.1.1 4.27E-06
26263 71 Q/H 153 rs770600641 0.3938 None gnomAD-4.0.0 1.62789E-06
26265 73 I/F 155 None 0.2100 None gnomAD-4.0.0 2.40064E-06
26267 75 R/K 157 None 0.3321 None gnomAD-4.0.0 1.37705E-06
26267 75 R/S 157 rs1373203200 0.3321 None gnomAD-3.1.2 6.57E-06
26267 75 R/S 157 rs1373203200 0.3321 None gnomAD-4.0.0 6.57454E-06
26268 76 A/T 158 rs1023398113 0.1424 None gnomAD-4.0.0 2.75416E-06
26268 76 A/V 158 None 0.1424 None gnomAD-4.0.0 1.6141E-06
26270 78 N/I 161 None 0.2016 None gnomAD-4.0.0 2.75281E-06
26270 78 N/S 161 rs1239041708 0.2016 None gnomAD-3.1.2 6.58E-06
26270 78 N/S 161 rs1239041708 0.2016 None gnomAD-4.0.0 1.246E-06
26270 78 N/T 161 rs1239041708 0.2016 None gnomAD-4.0.0 6.88203E-07
26271 79 V/I 162 rs748841355 0.7911 None gnomAD-2.1.1 8.34E-06
26271 79 V/I 162 rs748841355 0.7911 None gnomAD-3.1.2 6.58E-06
26271 79 V/I 162 rs748841355 0.7911 None gnomAD-4.0.0 5.17895E-06
26272 80 A/V 163 None 0.6845 None gnomAD-4.0.0 2.06366E-06
26273 81 G/D 164 None 0.3977 None gnomAD-4.0.0 1.60977E-06
26276 84 S/P 168 None 0.3435 None gnomAD-4.0.0 6.87401E-07
26277 85 F/L 169 rs1265065751 0.2842 None gnomAD-2.1.1 4.13E-06
26277 85 F/L 169 rs1265065751 0.2842 None gnomAD-4.0.0 1.60822E-06
26277 85 F/Y 169 None 0.2842 None gnomAD-4.0.0 1.20032E-06
26278 86 P/A 171 rs1235411503 0.3881 None gnomAD-4.0.0 1.60839E-06
26278 86 P/L 171 None 0.3881 None gnomAD-4.0.0 2.7495E-06
26279 87 V/I 172 None 0.1299 None gnomAD-4.0.0 6.87419E-07
26279 87 V/L 172 rs878904723 0.1299 None gnomAD-2.1.1 4.14E-06
26279 87 V/L 172 rs878904723 0.1299 None gnomAD-4.0.0 1.78729E-05
26280 88 N/H 173 None 0.4484 None gnomAD-4.0.0 1.20032E-06
26280 88 N/T 173 rs569174612 0.4484 None gnomAD-2.1.1 4.13E-06
26280 88 N/T 173 rs569174612 0.4484 None gnomAD-3.1.2 6.58E-06
26280 88 N/T 173 rs569174612 0.4484 None 1000 genomes 1.99681E-04
26280 88 N/T 173 rs569174612 0.4484 None gnomAD-4.0.0 2.5842E-06
26281 89 V/I 174 rs747681662 0.1178 None gnomAD-2.1.1 1.65E-05
26281 89 V/I 174 rs747681662 0.1178 None gnomAD-3.1.2 2.63E-05
26281 89 V/I 174 rs747681662 0.1178 None gnomAD-4.0.0 7.755E-06