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

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
26193 1 I/L 1 rs727505241 0.2201 None gnomAD-2.1.1 8.16E-06
26193 1 I/L 1 rs727505241 0.2201 None gnomAD-3.1.2 6.57E-06
26193 1 I/L 1 rs727505241 0.2201 None gnomAD-4.0.0 9.94007E-06
26195 3 M/V 3 rs369118365 0.1665 None gnomAD-2.1.1 2.53E-05
26195 3 M/V 3 rs369118365 0.1665 None gnomAD-3.1.2 2.63E-05
26195 3 M/V 3 rs369118365 0.1665 None gnomAD-4.0.0 1.49076E-05
26196 4 D/E 4 None 0.2915 None gnomAD-4.0.0 1.20032E-06
26196 4 D/G 4 None 0.2915 None gnomAD-4.0.0 1.20032E-06
26196 4 D/H 4 rs777065318 0.2915 None gnomAD-3.1.2 1.32E-05
26196 4 D/H 4 rs777065318 0.2915 None gnomAD-4.0.0 1.49085E-05
26196 4 D/N 4 rs777065318 0.2915 None gnomAD-2.1.1 4.08E-06
26196 4 D/N 4 rs777065318 0.2915 None gnomAD-4.0.0 6.85989E-07
26197 5 P/A 5 rs747052899 0.5109 None gnomAD-4.0.0 3.42842E-06
26197 5 P/T 5 rs747052899 0.5109 None gnomAD-2.1.1 4.08E-06
26197 5 P/T 5 rs747052899 0.5109 None gnomAD-3.1.2 2.63E-05
26197 5 P/T 5 rs747052899 0.5109 None gnomAD-4.0.0 5.58866E-06
26202 10 T/I 11 None 0.4392 None gnomAD-4.0.0 3.42548E-06
26202 10 T/P 11 rs1364192252 0.4392 None gnomAD-2.1.1 4.06E-06
26202 10 T/P 11 rs1364192252 0.4392 None gnomAD-4.0.0 2.05572E-06
26203 11 I/T 13 rs766839297 0.1941 None gnomAD-4.0.0 1.59545E-06
26204 12 V/M 14 None 0.4117 None gnomAD-4.0.0 2.74056E-06
26205 13 V/A 16 rs398124456 0.1790 None gnomAD-4.0.0 1.59498E-06
26205 13 V/G 16 None 0.1790 None gnomAD-4.0.0 1.59498E-06
26206 14 N/S 18 rs1400612460 0.4810 None gnomAD-2.1.1 4.05E-06
26206 14 N/S 18 rs1400612460 0.4810 None gnomAD-4.0.0 1.59447E-06
26207 15 A/T 23 None 0.4365 None gnomAD-4.0.0 1.59445E-06
26208 16 G/E 24 rs778591122 0.3042 None gnomAD-2.1.1 4.04E-06
26208 16 G/E 24 rs778591122 0.3042 None gnomAD-4.0.0 1.59403E-06
26208 16 G/R 24 None 0.3042 None gnomAD-4.0.0 1.59412E-06
26210 18 T/I 26 None 0.3250 None gnomAD-4.0.0 6.84563E-07
26210 18 T/K 26 rs879021950 0.3250 None gnomAD-2.1.1 3.19E-05
26210 18 T/K 26 rs879021950 0.3250 None gnomAD-3.1.2 1.31E-05
26210 18 T/K 26 rs879021950 0.3250 None gnomAD-4.0.0 2.48003E-06
26212 20 R/S 29 rs756880931 0.4861 None gnomAD-4.0.0 6.84549E-07
26212 20 R/T 29 rs11685237 0.4861 None gnomAD-3.1.2 6.58E-06
26212 20 R/T 29 rs11685237 0.4861 None gnomAD-4.0.0 6.5754E-06
26213 21 L/F 30 rs1553594441 0.1124 None gnomAD-4.0.0 6.84532E-06
26213 21 L/P 30 rs2154166338 0.1124 None gnomAD-3.1.2 6.57E-06
26213 21 L/P 30 rs2154166338 0.1124 None gnomAD-4.0.0 2.56412E-06
26214 22 E/K 31 rs944710014 0.5803 None gnomAD-2.1.1 4.03E-06
26214 22 E/K 31 rs944710014 0.5803 None gnomAD-3.1.2 2.63E-05
26214 22 E/K 31 rs944710014 0.5803 None gnomAD-4.0.0 4.33978E-06
26216 24 D/V 34 None 0.4617 None gnomAD-4.0.0 1.5929E-06
26217 25 V/A 35 rs748869015 0.1278 None gnomAD-2.1.1 4.03E-06
26217 25 V/A 35 rs748869015 0.1278 None gnomAD-4.0.0 1.59286E-06
26221 29 P/L 42 rs912454417 0.4042 None gnomAD-3.1.2 1.97E-05
26221 29 P/L 42 rs912454417 0.4042 None gnomAD-4.0.0 3.71991E-06
26221 29 P/R 42 None 0.4042 None gnomAD-4.0.0 2.05348E-06
26221 29 P/T 42 rs1421106206 0.4042 None gnomAD-4.0.0 4.10706E-06
26222 30 L/R 43 rs1470470841 0.3971 None gnomAD-3.1.2 1.32E-05
26222 30 L/R 43 rs1470470841 0.3971 None gnomAD-4.0.0 1.31524E-05
26223 31 P/H 44 rs1706322297 0.1633 None gnomAD-4.0.0 1.59279E-06
26223 31 P/S 44 rs777105534 0.1633 None gnomAD-2.1.1 1.21E-05
26223 31 P/S 44 rs777105534 0.1633 None gnomAD-3.1.2 6.58E-06
26223 31 P/S 44 rs777105534 0.1633 None gnomAD-4.0.0 6.81938E-06
26224 32 T/A 45 rs1480422530 0.7007 None gnomAD-2.1.1 4.03E-06
26224 32 T/A 45 rs1480422530 0.7007 None gnomAD-4.0.0 6.84535E-07
26224 32 T/I 45 rs756093359 0.7007 None gnomAD-2.1.1 4.03E-06
26224 32 T/I 45 rs756093359 0.7007 None gnomAD-4.0.0 1.59296E-06
26225 33 I/M 46 None 0.2354 None gnomAD-4.0.0 1.20033E-06
26225 33 I/N 46 None 0.2354 None gnomAD-4.0.0 6.8458E-07
26225 33 I/T 46 rs12463674 0.2354 None gnomAD-2.1.1 2.34287E-01
26225 33 I/T 46 rs12463674 0.2354 None gnomAD-3.1.2 2.14052E-01
26225 33 I/T 46 rs12463674 0.2354 None 1000 genomes 1.29992E-01
26225 33 I/T 46 rs12463674 0.2354 None gnomAD-4.0.0 2.78864E-01
26226 34 E/D 47 rs1251054791 0.3246 None gnomAD-2.1.1 8.06E-06
26226 34 E/D 47 rs1251054791 0.3246 None gnomAD-4.0.0 2.05362E-06
26226 34 E/K 47 rs754878387 0.3246 None gnomAD-2.1.1 5.01E-05
26226 34 E/K 47 rs754878387 0.3246 None gnomAD-3.1.2 1.32E-05
26226 34 E/K 47 rs754878387 0.3246 None gnomAD-4.0.0 1.98402E-05
26226 34 E/Q 47 rs754878387 0.3246 None gnomAD-2.1.1 6.8E-05
26226 34 E/Q 47 rs754878387 0.3246 None gnomAD-3.1.2 5.26E-05
26226 34 E/Q 47 rs754878387 0.3246 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 0.3528 None gnomAD-4.0.0 1.59352E-06
26229 37 R/K 50 rs751381334 0.3528 None gnomAD-2.1.1 4.03E-06
26229 37 R/K 50 rs751381334 0.3528 None gnomAD-3.1.2 6.57E-06
26229 37 R/K 50 rs751381334 0.3528 None gnomAD-4.0.0 6.57454E-06
26229 37 R/T 50 None 0.3528 None gnomAD-4.0.0 1.20033E-06
26230 38 G/V 51 None 0.3218 None gnomAD-4.0.0 1.20032E-06
26233 41 E/K 56 rs267599036 0.6620 None gnomAD-2.1.1 4.07E-06
26233 41 E/K 56 rs267599036 0.6620 None gnomAD-4.0.0 1.60051E-06
26234 42 I/T 58 None 0.2241 None gnomAD-4.0.0 1.6032E-06
26234 42 I/V 58 None 0.2241 None gnomAD-4.0.0 1.60302E-06
26235 43 E/Q 69 rs1695984178 0.9393 None gnomAD-3.1.2 1.97E-05
26235 43 E/Q 69 rs1695984178 0.9393 None gnomAD-4.0.0 1.97254E-05
26237 45 S/F 73 rs1706305589 0.3591 None gnomAD-4.0.0 1.60647E-06
26240 48 C/Y 121 rs1575695077 0.1823 None gnomAD-3.1.2 6.57E-06
26240 48 C/Y 121 rs1575695077 0.1823 None gnomAD-4.0.0 3.11452E-06
26241 49 E/G 122 None 0.3392 None gnomAD-4.0.0 6.88882E-07
26242 50 I/T 123 None 0.2409 None gnomAD-4.0.0 1.20032E-06
26242 50 I/V 123 rs750748102 0.2409 None gnomAD-4.0.0 1.61667E-06
26243 51 K/E 125 rs1372864085 0.4585 None gnomAD-4.0.0 3.44556E-06
26243 51 K/M 125 rs763231010 0.4585 None gnomAD-2.1.1 4.17E-06
26243 51 K/M 125 rs763231010 0.4585 None gnomAD-4.0.0 1.61782E-06
26244 52 N/D 127 None 0.3991 None gnomAD-4.0.0 6.89519E-07
26244 52 N/H 127 None 0.3991 None gnomAD-4.0.0 6.89519E-07
26244 52 N/S 127 None 0.3991 None gnomAD-4.0.0 3.24203E-06
26246 54 D/N 131 rs866667558 0.6440 None gnomAD-4.0.0 1.20032E-06
26248 56 K/Q 135 rs1281337813 0.5146 None gnomAD-2.1.1 4.23E-06
26248 56 K/Q 135 rs1281337813 0.5146 None gnomAD-4.0.0 2.76372E-06
26249 57 A/T 136 None 0.1037 None gnomAD-4.0.0 1.63133E-06
26252 60 I/T 139 None 0.1597 None gnomAD-4.0.0 4.85157E-06
26255 63 D/H 143 None 0.6329 None gnomAD-4.0.0 1.38675E-06
26255 63 D/N 143 rs1368108260 0.6329 None gnomAD-2.1.1 8.7E-06
26255 63 D/N 143 rs1368108260 0.6329 None gnomAD-4.0.0 1.38675E-06
26256 64 A/G 144 None 0.0973 None gnomAD-4.0.0 6.93041E-07
26256 64 A/P 144 rs765170810 0.0973 None gnomAD-3.1.2 6.57E-06
26256 64 A/P 144 rs765170810 0.0973 None gnomAD-4.0.0 6.57402E-06
26256 64 A/T 144 rs765170810 0.0973 None gnomAD-3.1.2 6.57E-06
26256 64 A/T 144 rs765170810 0.0973 None gnomAD-4.0.0 3.93976E-06
26257 65 I/V 145 rs537603440 0.2892 None gnomAD-2.1.1 5.65E-05
26257 65 I/V 145 rs537603440 0.2892 None gnomAD-3.1.2 1.31E-05
26257 65 I/V 145 rs537603440 0.2892 None 1000 genomes None
26257 65 I/V 145 rs537603440 0.2892 None gnomAD-4.0.0 1.12817E-05
26260 68 D/N 149 None 0.1531 None gnomAD-4.0.0 1.63483E-06
26260 68 D/V 149 rs1221038194 0.1531 None gnomAD-4.0.0 1.38395E-06
26261 69 G/C 151 rs1179223519 0.3073 None gnomAD-2.1.1 4.33E-06
26261 69 G/C 151 rs1179223519 0.3073 None gnomAD-3.1.2 1.32E-05
26261 69 G/C 151 rs1179223519 0.3073 None gnomAD-4.0.0 3.92673E-06
26261 69 G/D 151 None 0.3073 None gnomAD-4.0.0 4.84215E-06
26262 70 G/E 152 rs775800532 0.3270 None gnomAD-2.1.1 4.28E-06
26262 70 G/E 152 rs775800532 0.3270 None gnomAD-4.0.0 6.91331E-07
26262 70 G/R 152 rs794729290 0.3270 None gnomAD-2.1.1 8.57E-06
26262 70 G/R 152 rs794729290 0.3270 None gnomAD-4.0.0 3.45716E-06
26262 70 G/V 152 None 0.3270 None gnomAD-4.0.0 6.91331E-07
26263 71 Q/E 153 None 0.4167 None gnomAD-4.0.0 2.07367E-06
26263 71 Q/H 153 rs770600641 0.4167 None gnomAD-2.1.1 4.27E-06
26263 71 Q/H 153 rs770600641 0.4167 None gnomAD-4.0.0 1.62789E-06
26265 73 I/F 155 None 0.2141 None gnomAD-4.0.0 2.40064E-06
26267 75 R/K 157 None 0.4670 None gnomAD-4.0.0 1.37705E-06
26267 75 R/S 157 rs1373203200 0.4670 None gnomAD-3.1.2 6.57E-06
26267 75 R/S 157 rs1373203200 0.4670 None gnomAD-4.0.0 6.57454E-06
26268 76 A/T 158 rs1023398113 0.0972 None gnomAD-4.0.0 2.75416E-06
26268 76 A/V 158 None 0.0972 None gnomAD-4.0.0 1.6141E-06
26270 78 N/I 161 None 0.1200 None gnomAD-4.0.0 2.75281E-06
26270 78 N/S 161 rs1239041708 0.1200 None gnomAD-3.1.2 6.58E-06
26270 78 N/S 161 rs1239041708 0.1200 None gnomAD-4.0.0 1.246E-06
26270 78 N/T 161 rs1239041708 0.1200 None gnomAD-4.0.0 6.88203E-07
26271 79 V/I 162 rs748841355 0.7159 None gnomAD-2.1.1 8.34E-06
26271 79 V/I 162 rs748841355 0.7159 None gnomAD-3.1.2 6.58E-06
26271 79 V/I 162 rs748841355 0.7159 None gnomAD-4.0.0 5.17895E-06
26272 80 A/V 163 None 0.2880 None gnomAD-4.0.0 2.06366E-06
26273 81 G/D 164 None 0.2547 None gnomAD-4.0.0 1.60977E-06
26276 84 S/P 168 None 0.3829 None gnomAD-4.0.0 6.87401E-07
26277 85 F/L 169 rs1265065751 0.3075 None gnomAD-2.1.1 4.13E-06
26277 85 F/L 169 rs1265065751 0.3075 None gnomAD-4.0.0 1.60822E-06
26277 85 F/Y 169 None 0.3075 None gnomAD-4.0.0 1.20032E-06
26278 86 P/A 171 rs1235411503 0.3929 None gnomAD-4.0.0 1.60839E-06
26278 86 P/L 171 None 0.3929 None gnomAD-4.0.0 2.7495E-06
26279 87 V/I 172 None 0.1218 None gnomAD-4.0.0 6.87419E-07
26279 87 V/L 172 rs878904723 0.1218 None gnomAD-2.1.1 4.14E-06
26279 87 V/L 172 rs878904723 0.1218 None gnomAD-4.0.0 1.78729E-05
26280 88 N/H 173 None 0.4714 None gnomAD-4.0.0 1.20032E-06
26280 88 N/T 173 rs569174612 0.4714 None gnomAD-2.1.1 4.13E-06
26280 88 N/T 173 rs569174612 0.4714 None gnomAD-3.1.2 6.58E-06
26280 88 N/T 173 rs569174612 0.4714 None 1000 genomes 1.99681E-04
26280 88 N/T 173 rs569174612 0.4714 None gnomAD-4.0.0 2.5842E-06
26281 89 V/I 174 rs747681662 0.1163 None gnomAD-2.1.1 1.65E-05
26281 89 V/I 174 rs747681662 0.1163 None gnomAD-3.1.2 2.63E-05
26281 89 V/I 174 rs747681662 0.1163 None gnomAD-4.0.0 7.755E-06