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

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
2267 1 V/A 1 None 0.2310 None gnomAD-4.0.0 1.20032E-06
2268 2 E/G 2 rs1288686465 0.5654 None gnomAD-2.1.1 3.18E-05
2268 2 E/Q 2 None 0.5654 None gnomAD-4.0.0 1.59429E-06
2269 3 F/S 3 rs1340770955 0.2033 None gnomAD-2.1.1 8.01E-06
2269 3 F/S 3 rs1340770955 0.2033 None gnomAD-4.0.0 3.18768E-06
2271 5 K/R 5 None 0.2399 None gnomAD-4.0.0 1.20032E-06
2272 6 E/K 7 None 0.4873 None gnomAD-4.0.0 1.59336E-06
2274 8 Q/E 9 rs145649088 0.7268 None gnomAD-2.1.1 1.42E-05
2274 8 Q/E 9 rs145649088 0.7268 None gnomAD-3.1.2 2.63E-05
2274 8 Q/E 9 rs145649088 0.7268 None gnomAD-4.0.0 1.54983E-05
2276 10 I/M 13 rs780309167 0.2619 None gnomAD-2.1.1 3.99E-06
2276 10 I/M 13 rs780309167 0.2619 None gnomAD-4.0.0 4.77617E-06
2276 10 I/T 13 None 0.2619 None gnomAD-4.0.0 2.40078E-06
2276 10 I/V 13 rs794729578 0.2619 None gnomAD-2.1.1 3.99E-06
2276 10 I/V 13 rs794729578 0.2619 None gnomAD-4.0.0 1.36882E-06
2277 11 E/Q 14 rs373469418 0.3531 None gnomAD-2.1.1 1.2E-05
2277 11 E/Q 14 rs373469418 0.3531 None gnomAD-3.1.2 1.31E-05
2277 11 E/Q 14 rs373469418 0.3531 None gnomAD-4.0.0 2.04532E-05
2278 12 V/F 16 rs779274451 0.1422 None gnomAD-2.1.1 7.99E-06
2278 12 V/F 16 rs779274451 0.1422 None gnomAD-4.0.0 5.47484E-06
2278 12 V/I 16 rs779274451 0.1422 None gnomAD-2.1.1 3.99E-06
2278 12 V/I 16 rs779274451 0.1422 None gnomAD-4.0.0 6.84355E-07
2279 13 P/A 18 rs143679901 0.2934 None gnomAD-2.1.1 7.98E-06
2279 13 P/A 18 rs143679901 0.2934 None gnomAD-3.1.2 1.97E-05
2279 13 P/A 18 rs143679901 0.2934 None 1000 genomes 5.99042E-04
2279 13 P/A 18 rs143679901 0.2934 None gnomAD-4.0.0 4.33832E-06
2282 16 Y/F 25 None 0.7085 None gnomAD-4.0.0 6.84216E-07
2282 16 Y/H 25 rs727503691 0.7085 None gnomAD-3.1.2 1.31E-05
2282 16 Y/H 25 rs727503691 0.7085 None gnomAD-4.0.0 2.47906E-06
2282 16 Y/S 25 rs754307416 0.7085 None gnomAD-2.1.1 3.99E-06
2282 16 Y/S 25 rs754307416 0.7085 None gnomAD-3.1.2 1.31E-05
2282 16 Y/S 25 rs754307416 0.7085 None gnomAD-4.0.0 4.33773E-06
2283 17 S/A 26 None 0.3834 None gnomAD-4.0.0 1.20034E-06
2283 17 S/T 26 rs764606170 0.3834 None gnomAD-2.1.1 3.99E-06
2284 18 G/A 28 rs751111175 0.1672 None gnomAD-2.1.1 1.2E-05
2284 18 G/A 28 rs751111175 0.1672 None gnomAD-4.0.0 3.42106E-06
2285 19 E/D 29 rs2091955390 0.7169 None gnomAD-4.0.0 6.84193E-07
2287 21 E/K 31 rs1235978208 0.2370 None gnomAD-2.1.1 3.99E-06
2287 21 E/K 31 rs1235978208 0.2370 None gnomAD-4.0.0 3.1822E-06
2287 21 E/Q 31 rs1235978208 0.2370 None gnomAD-3.1.2 6.57E-06
2287 21 E/Q 31 rs1235978208 0.2370 None gnomAD-4.0.0 6.57151E-06
2289 23 I/F 34 None 0.1856 None gnomAD-4.0.0 3.18184E-06
2289 23 I/S 34 rs200440412 0.1856 None gnomAD-2.1.1 1.2E-05
2289 23 I/S 34 rs200440412 0.1856 None gnomAD-4.0.0 2.5998E-05
2289 23 I/V 34 rs1274078547 0.1856 None gnomAD-3.1.2 1.31E-05
2289 23 I/V 34 rs1274078547 0.1856 None gnomAD-4.0.0 3.84226E-06
2291 25 S/P 38 rs1199263112 0.3490 None gnomAD-2.1.1 3.98E-06
2291 25 S/P 38 rs1199263112 0.3490 None gnomAD-4.0.0 1.59084E-06
2292 26 P/L 41 rs1281132116 0.3088 None gnomAD-2.1.1 3.98E-06
2292 26 P/L 41 rs1281132116 0.3088 None gnomAD-4.0.0 6.84136E-07
2292 26 P/Q 41 None 0.3088 None gnomAD-4.0.0 6.84136E-07
2295 29 I/M 44 None 0.3247 None gnomAD-4.0.0 1.36821E-06
2295 29 I/V 44 rs1239511094 0.3247 None gnomAD-2.1.1 3.98E-06
2295 29 I/V 44 rs1239511094 0.3247 None gnomAD-3.1.2 6.57E-06
2295 29 I/V 44 rs1239511094 0.3247 None gnomAD-4.0.0 3.84198E-06
2297 31 G/A 46 None 0.2596 None gnomAD-4.0.0 1.59071E-06
2299 33 W/R 48 rs145585333 0.1083 None gnomAD-2.1.1 1.77E-05
2299 33 W/R 48 rs145585333 0.1083 None gnomAD-3.1.2 1.97E-05
2299 33 W/R 48 rs145585333 0.1083 None gnomAD-4.0.0 3.47001E-05
2300 34 Y/C 49 rs772093035 0.2141 None gnomAD-2.1.1 1.42E-05
2300 34 Y/C 49 rs772093035 0.2141 None gnomAD-3.1.2 1.18231E-04
2300 34 Y/C 49 rs772093035 0.2141 None gnomAD-4.0.0 4.70868E-05
2300 34 Y/F 49 rs772093035 0.2141 None gnomAD-2.1.1 3.98E-06
2300 34 Y/F 49 rs772093035 0.2141 None gnomAD-4.0.0 4.78862E-06
2301 35 H/L 50 rs746122611 0.1423 None gnomAD-2.1.1 3.98E-06
2301 35 H/L 50 rs746122611 0.1423 None gnomAD-4.0.0 6.84097E-07
2301 35 H/P 50 None 0.1423 None gnomAD-4.0.0 6.84097E-07
2301 35 H/R 50 rs746122611 0.1423 None gnomAD-2.1.1 3.18E-05
2301 35 H/R 50 rs746122611 0.1423 None gnomAD-4.0.0 5.47277E-06
2302 36 N/I 51 None 0.4225 None gnomAD-4.0.0 1.20032E-06
2303 37 D/E 52 None 0.9008 None gnomAD-4.0.0 1.20032E-06
2303 37 D/G 52 None 0.9008 None gnomAD-4.0.0 1.59064E-06
2303 37 D/H 52 rs779125886 0.9008 None gnomAD-2.1.1 7.97E-06
2303 37 D/H 52 rs779125886 0.9008 None gnomAD-4.0.0 1.4366E-05
2304 38 V/M 55 rs1412860664 0.5954 None gnomAD-2.1.1 3.98E-06
2304 38 V/M 55 rs1412860664 0.5954 None gnomAD-4.0.0 3.18128E-06
2305 39 E/D 56 rs778211562 0.3099 None gnomAD-3.1.2 6.57E-06
2305 39 E/D 56 rs778211562 0.3099 None gnomAD-4.0.0 6.57108E-06
2305 39 E/G 56 None 0.3099 None gnomAD-4.0.0 1.59062E-06
2305 39 E/K 56 rs367761468 0.3099 None gnomAD-2.1.1 3.98E-05
2305 39 E/K 56 rs367761468 0.3099 None gnomAD-3.1.2 3.29E-05
2305 39 E/K 56 rs367761468 0.3099 None gnomAD-4.0.0 7.68294E-05
2305 39 E/Q 56 rs367761468 0.3099 None gnomAD-2.1.1 1.2E-05
2305 39 E/Q 56 rs367761468 0.3099 None gnomAD-3.1.2 2.63E-05
2305 39 E/Q 56 rs367761468 0.3099 None gnomAD-4.0.0 1.11527E-05
2307 41 K/T 59 rs1327919896 0.6603 None gnomAD-2.1.1 3.18E-05
2307 41 K/T 59 rs1327919896 0.6603 None gnomAD-3.1.2 6.57E-06
2307 41 K/T 59 rs1327919896 0.6603 None gnomAD-4.0.0 6.57047E-06
2308 42 S/C 70 None 0.4171 None gnomAD-4.0.0 6.84089E-07
2308 42 S/P 70 None 0.4171 None gnomAD-4.0.0 3.18114E-06
2308 42 S/Y 70 rs577966527 0.4171 None gnomAD-2.1.1 1.42E-05
2308 42 S/Y 70 rs577966527 0.4171 None gnomAD-3.1.2 3.94E-05
2308 42 S/Y 70 rs577966527 0.4171 None 1000 genomes 1.99681E-04
2308 42 S/Y 70 rs577966527 0.4171 None gnomAD-4.0.0 3.40758E-05
2309 43 N/K 73 rs147580120 0.3718 None gnomAD-2.1.1 2.39E-05
2309 43 N/K 73 rs147580120 0.3718 None gnomAD-3.1.2 8.54E-05
2309 43 N/K 73 rs147580120 0.3718 None 1000 genomes 1.99681E-04
2309 43 N/K 73 rs147580120 0.3718 None gnomAD-4.0.0 1.17714E-05
2309 43 N/S 73 rs1405410487 0.3718 None gnomAD-2.1.1 3.98E-06
2309 43 N/S 73 rs1405410487 0.3718 None gnomAD-4.0.0 1.59055E-06
2311 45 K/N 115 None 0.1557 None gnomAD-4.0.0 1.20032E-06
2312 46 Y/C 121 None 0.1997 None gnomAD-4.0.0 1.20032E-06
2312 46 Y/H 121 None 0.1997 None gnomAD-4.0.0 6.00161E-06
2313 47 T/A 122 rs1399835400 0.3584 None gnomAD-4.0.0 1.20032E-06
2313 47 T/I 122 None 0.3584 None gnomAD-4.0.0 1.36817E-06
2313 47 T/R 122 rs794729579 0.3584 None gnomAD-2.1.1 3.98E-06
2313 47 T/R 122 rs794729579 0.3584 None gnomAD-4.0.0 2.73633E-06
2314 48 I/T 123 rs397517708 0.2436 None gnomAD-2.1.1 3.98E-06
2314 48 I/T 123 rs397517708 0.2436 None gnomAD-3.1.2 1.31E-05
2314 48 I/T 123 rs397517708 0.2436 None gnomAD-4.0.0 1.11528E-05
2314 48 I/V 123 rs2091945518 0.2436 None gnomAD-4.0.0 1.20032E-06
2315 49 T/A 125 None 0.4828 None gnomAD-4.0.0 1.20032E-06
2315 49 T/K 125 None 0.4828 None gnomAD-4.0.0 1.59058E-06
2316 50 S/C 127 None 0.5931 None gnomAD-4.0.0 1.20032E-06
2317 51 R/C 130 rs750101152 0.8400 None gnomAD-2.1.1 1.99E-05
2317 51 R/C 130 rs750101152 0.8400 None gnomAD-3.1.2 1.31E-05
2317 51 R/C 130 rs750101152 0.8400 None gnomAD-4.0.0 2.35448E-05
2317 51 R/H 130 rs764882950 0.8400 None gnomAD-2.1.1 6.02E-05
2317 51 R/H 130 rs764882950 0.8400 None gnomAD-3.1.2 7.23E-05
2317 51 R/H 130 rs764882950 0.8400 None gnomAD-4.0.0 2.72607E-05
2317 51 R/L 130 rs764882950 0.8400 None gnomAD-3.1.2 6.57E-06
2317 51 R/L 130 rs764882950 0.8400 None gnomAD-4.0.0 1.23921E-06
2317 51 R/S 130 rs750101152 0.8400 None gnomAD-3.1.2 6.57E-06
2317 51 R/S 130 rs750101152 0.8400 None gnomAD-4.0.0 6.57289E-06
2318 52 R/C 131 rs1487336498 0.7682 None gnomAD-2.1.1 7.97E-06
2318 52 R/C 131 rs1487336498 0.7682 None gnomAD-4.0.0 2.05225E-06
2318 52 R/H 131 rs761566436 0.7682 None gnomAD-2.1.1 4.96E-05
2318 52 R/H 131 rs761566436 0.7682 None gnomAD-3.1.2 3.29E-05
2318 52 R/H 131 rs761566436 0.7682 None gnomAD-4.0.0 4.33728E-05
2318 52 R/L 131 None 0.7682 None gnomAD-4.0.0 1.36817E-06
2320 54 R/C 135 rs776478343 0.3704 None gnomAD-2.1.1 2.79E-05
2320 54 R/C 135 rs776478343 0.3704 None gnomAD-3.1.2 3.29E-05
2320 54 R/C 135 rs776478343 0.3704 None gnomAD-4.0.0 3.09808E-05
2320 54 R/G 135 None 0.3704 None gnomAD-4.0.0 6.84089E-07
2320 54 R/H 135 rs374615369 0.3704 None gnomAD-2.1.1 7.44E-05
2320 54 R/H 135 rs374615369 0.3704 None gnomAD-3.1.2 7.89E-05
2320 54 R/H 135 rs374615369 0.3704 None gnomAD-4.0.0 8.54974E-05
2321 55 Q/K 136 None 0.1305 None gnomAD-4.0.0 1.20032E-06
2322 56 N/I 137 rs1283394684 0.2294 None gnomAD-2.1.1 3.98E-06
2322 56 N/I 137 rs1283394684 0.2294 None gnomAD-4.0.0 1.59057E-06
2324 58 T/M 139 rs760633130 0.2393 None gnomAD-2.1.1 7.08E-05
2324 58 T/M 139 rs760633130 0.2393 None gnomAD-3.1.2 5.92E-05
2324 58 T/M 139 rs760633130 0.2393 None gnomAD-4.0.0 4.08917E-05
2324 58 T/P 139 None 0.2393 None gnomAD-4.0.0 1.59057E-06
2325 59 V/G 140 None 0.0983 None gnomAD-4.0.0 1.59058E-06
2325 59 V/I 140 None 0.0983 None gnomAD-4.0.0 1.20032E-06
2327 61 D/G 143 rs1342961134 0.6823 None gnomAD-2.1.1 7.97E-06
2327 61 D/G 143 rs1342961134 0.6823 None gnomAD-3.1.2 1.31E-05
2327 61 D/G 143 rs1342961134 0.6823 None gnomAD-4.0.0 6.19565E-06
2327 61 D/V 143 None 0.6823 None gnomAD-4.0.0 6.84082E-07
2327 61 D/Y 143 rs1554002409 0.6823 None gnomAD-3.1.2 6.57E-06
2327 61 D/Y 143 rs1554002409 0.6823 None gnomAD-4.0.0 2.02994E-06
2328 62 V/A 144 rs997288701 0.0997 None gnomAD-3.1.2 6.57E-06
2328 62 V/A 144 rs997288701 0.0997 None gnomAD-4.0.0 6.57307E-06
2328 62 V/I 144 rs2091939887 0.0997 None gnomAD-3.1.2 6.57E-06
2328 62 V/I 144 rs2091939887 0.0997 None gnomAD-4.0.0 1.85875E-06
2330 64 K/N 146 None 0.7874 None gnomAD-4.0.0 2.05222E-06
2332 66 D/G 149 rs749655939 0.1435 None gnomAD-2.1.1 1.42E-05
2332 66 D/G 149 rs749655939 0.1435 None gnomAD-4.0.0 6.1567E-06
2332 66 D/N 149 rs771180382 0.1435 None gnomAD-2.1.1 1.2E-05
2332 66 D/N 149 rs771180382 0.1435 None gnomAD-3.1.2 6.57E-06
2332 66 D/N 149 rs771180382 0.1435 None gnomAD-4.0.0 7.68433E-06
2332 66 D/Y 149 rs771180382 0.1435 None gnomAD-2.1.1 3.98E-06
2332 66 D/Y 149 rs771180382 0.1435 None gnomAD-4.0.0 1.59057E-06
2333 67 Q/E 151 rs778177301 0.3169 None gnomAD-2.1.1 7.97E-06
2333 67 Q/E 151 rs778177301 0.3169 None gnomAD-4.0.0 2.73632E-06
2333 67 Q/R 151 None 0.3169 None gnomAD-4.0.0 1.20032E-06
2334 68 G/E 152 None 0.2026 None gnomAD-4.0.0 2.40064E-06
2334 68 G/R 152 None 0.2026 None gnomAD-4.0.0 1.59056E-06
2335 69 E/K 153 rs756497839 0.3648 None gnomAD-2.1.1 1.06E-05
2335 69 E/K 153 rs756497839 0.3648 None gnomAD-3.1.2 1.31E-05
2335 69 E/K 153 rs756497839 0.3648 None gnomAD-4.0.0 4.95636E-06
2337 71 S/G 155 None 0.1096 None gnomAD-4.0.0 1.59057E-06
2339 73 V/L 157 rs964493112 0.2137 None gnomAD-2.1.1 3.98E-06
2339 73 V/L 157 rs964493112 0.2137 None gnomAD-4.0.0 1.59059E-06
2341 75 D/N 159 rs781736462 0.8767 None gnomAD-2.1.1 1.59E-05
2341 75 D/N 159 rs781736462 0.8767 None gnomAD-3.1.2 1.97E-05
2341 75 D/N 159 rs781736462 0.8767 None gnomAD-4.0.0 7.43525E-06
2341 75 D/V 159 None 0.8767 None gnomAD-4.0.0 1.20032E-06
2341 75 D/Y 159 rs781736462 0.8767 None gnomAD-2.1.1 7.97E-06
2341 75 D/Y 159 rs781736462 0.8767 None gnomAD-4.0.0 8.20911E-06
2342 76 G/E 161 rs2091934798 0.6103 None gnomAD-3.1.2 6.57E-06
2342 76 G/E 161 rs2091934798 0.6103 None gnomAD-4.0.0 2.56151E-06
2342 76 G/R 161 rs749933813 0.6103 None gnomAD-2.1.1 1.77E-05
2342 76 G/R 161 rs749933813 0.6103 None gnomAD-3.1.2 1.31E-05
2342 76 G/R 161 rs749933813 0.6103 None gnomAD-4.0.0 4.33722E-06
2343 77 K/Q 166 None 0.3759 None gnomAD-4.0.0 6.84092E-07
2344 78 K/R 168 None 0.3561 None gnomAD-4.0.0 1.59062E-06
2345 79 T/A 169 None 0.0910 None gnomAD-4.0.0 6.15683E-06
2345 79 T/I 169 rs1273542789 0.0910 None gnomAD-2.1.1 3.98E-06
2345 79 T/I 169 rs1273542789 0.0910 None gnomAD-4.0.0 1.59063E-06
2345 79 T/S 169 rs1336710526 0.0910 None gnomAD-2.1.1 3.98E-06
2345 79 T/S 169 rs1336710526 0.0910 None gnomAD-4.0.0 1.36818E-06
2346 80 T/A 171 rs2091933090 0.4005 None gnomAD-3.1.2 6.57E-06
2346 80 T/A 171 rs2091933090 0.4005 None gnomAD-4.0.0 6.57194E-06
2346 80 T/N 171 None 0.4005 None gnomAD-4.0.0 1.36817E-06
2346 80 T/S 171 rs1204644512 0.4005 None gnomAD-2.1.1 3.19E-05
2346 80 T/S 171 rs1204644512 0.4005 None gnomAD-3.1.2 1.31E-05
2346 80 T/S 171 rs1204644512 0.4005 None gnomAD-4.0.0 1.85884E-06
2351 85 M/T 176 rs756899805 0.1153 None gnomAD-2.1.1 3.98E-06
2351 85 M/T 176 rs756899805 0.1153 None gnomAD-4.0.0 1.5906E-06