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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2267 1 V/A 1 None 0.4414 None gnomAD-4.0.0 1.20032E-06
2268 2 E/G 2 rs1288686465 0.7305 None gnomAD-2.1.1 3.18E-05
2268 2 E/Q 2 None 0.7305 None gnomAD-4.0.0 1.59429E-06
2269 3 F/S 3 rs1340770955 0.2270 None gnomAD-2.1.1 8.01E-06
2269 3 F/S 3 rs1340770955 0.2270 None gnomAD-4.0.0 3.18768E-06
2271 5 K/R 5 None 0.2636 None gnomAD-4.0.0 1.20032E-06
2272 6 E/K 7 None 0.4594 None gnomAD-4.0.0 1.59336E-06
2274 8 Q/E 9 rs145649088 0.7908 None gnomAD-2.1.1 1.42E-05
2274 8 Q/E 9 rs145649088 0.7908 None gnomAD-3.1.2 2.63E-05
2274 8 Q/E 9 rs145649088 0.7908 None gnomAD-4.0.0 1.54983E-05
2276 10 I/M 13 rs780309167 0.2802 None gnomAD-2.1.1 3.99E-06
2276 10 I/M 13 rs780309167 0.2802 None gnomAD-4.0.0 4.77617E-06
2276 10 I/T 13 None 0.2802 None gnomAD-4.0.0 2.40078E-06
2276 10 I/V 13 rs794729578 0.2802 None gnomAD-2.1.1 3.99E-06
2276 10 I/V 13 rs794729578 0.2802 None gnomAD-4.0.0 1.36882E-06
2277 11 E/Q 14 rs373469418 0.4746 None gnomAD-2.1.1 1.2E-05
2277 11 E/Q 14 rs373469418 0.4746 None gnomAD-3.1.2 1.31E-05
2277 11 E/Q 14 rs373469418 0.4746 None gnomAD-4.0.0 2.04532E-05
2278 12 V/F 16 rs779274451 0.1509 None gnomAD-2.1.1 7.99E-06
2278 12 V/F 16 rs779274451 0.1509 None gnomAD-4.0.0 5.47484E-06
2278 12 V/I 16 rs779274451 0.1509 None gnomAD-2.1.1 3.99E-06
2278 12 V/I 16 rs779274451 0.1509 None gnomAD-4.0.0 6.84355E-07
2279 13 P/A 18 rs143679901 0.2930 None gnomAD-2.1.1 7.98E-06
2279 13 P/A 18 rs143679901 0.2930 None gnomAD-3.1.2 1.97E-05
2279 13 P/A 18 rs143679901 0.2930 None 1000 genomes 5.99042E-04
2279 13 P/A 18 rs143679901 0.2930 None gnomAD-4.0.0 4.33832E-06
2282 16 Y/F 25 None 0.7245 None gnomAD-4.0.0 6.84216E-07
2282 16 Y/H 25 rs727503691 0.7245 None gnomAD-3.1.2 1.31E-05
2282 16 Y/H 25 rs727503691 0.7245 None gnomAD-4.0.0 2.47906E-06
2282 16 Y/S 25 rs754307416 0.7245 None gnomAD-2.1.1 3.99E-06
2282 16 Y/S 25 rs754307416 0.7245 None gnomAD-3.1.2 1.31E-05
2282 16 Y/S 25 rs754307416 0.7245 None gnomAD-4.0.0 4.33773E-06
2283 17 S/A 26 None 0.3776 None gnomAD-4.0.0 1.20034E-06
2283 17 S/T 26 rs764606170 0.3776 None gnomAD-2.1.1 3.99E-06
2284 18 G/A 28 rs751111175 0.1728 None gnomAD-2.1.1 1.2E-05
2284 18 G/A 28 rs751111175 0.1728 None gnomAD-4.0.0 3.42106E-06
2285 19 E/D 29 rs2091955390 0.7106 None gnomAD-4.0.0 6.84193E-07
2287 21 E/K 31 rs1235978208 0.2253 None gnomAD-2.1.1 3.99E-06
2287 21 E/K 31 rs1235978208 0.2253 None gnomAD-4.0.0 3.1822E-06
2287 21 E/Q 31 rs1235978208 0.2253 None gnomAD-3.1.2 6.57E-06
2287 21 E/Q 31 rs1235978208 0.2253 None gnomAD-4.0.0 6.57151E-06
2289 23 I/F 34 None 0.1905 None gnomAD-4.0.0 3.18184E-06
2289 23 I/S 34 rs200440412 0.1905 None gnomAD-2.1.1 1.2E-05
2289 23 I/S 34 rs200440412 0.1905 None gnomAD-4.0.0 2.5998E-05
2289 23 I/V 34 rs1274078547 0.1905 None gnomAD-3.1.2 1.31E-05
2289 23 I/V 34 rs1274078547 0.1905 None gnomAD-4.0.0 3.84226E-06
2291 25 S/P 38 rs1199263112 0.3685 None gnomAD-2.1.1 3.98E-06
2291 25 S/P 38 rs1199263112 0.3685 None gnomAD-4.0.0 1.59084E-06
2292 26 P/L 41 rs1281132116 0.4276 None gnomAD-2.1.1 3.98E-06
2292 26 P/L 41 rs1281132116 0.4276 None gnomAD-4.0.0 6.84136E-07
2292 26 P/Q 41 None 0.4276 None gnomAD-4.0.0 6.84136E-07
2295 29 I/M 44 None 0.3478 None gnomAD-4.0.0 1.36821E-06
2295 29 I/V 44 rs1239511094 0.3478 None gnomAD-2.1.1 3.98E-06
2295 29 I/V 44 rs1239511094 0.3478 None gnomAD-3.1.2 6.57E-06
2295 29 I/V 44 rs1239511094 0.3478 None gnomAD-4.0.0 3.84198E-06
2297 31 G/A 46 None 0.2420 None gnomAD-4.0.0 1.59071E-06
2299 33 W/R 48 rs145585333 0.1103 None gnomAD-2.1.1 1.77E-05
2299 33 W/R 48 rs145585333 0.1103 None gnomAD-3.1.2 1.97E-05
2299 33 W/R 48 rs145585333 0.1103 None gnomAD-4.0.0 3.47001E-05
2300 34 Y/C 49 rs772093035 0.1967 None gnomAD-2.1.1 1.42E-05
2300 34 Y/C 49 rs772093035 0.1967 None gnomAD-3.1.2 1.18231E-04
2300 34 Y/C 49 rs772093035 0.1967 None gnomAD-4.0.0 4.70868E-05
2300 34 Y/F 49 rs772093035 0.1967 None gnomAD-2.1.1 3.98E-06
2300 34 Y/F 49 rs772093035 0.1967 None gnomAD-4.0.0 4.78862E-06
2301 35 H/L 50 rs746122611 0.1899 None gnomAD-2.1.1 3.98E-06
2301 35 H/L 50 rs746122611 0.1899 None gnomAD-4.0.0 6.84097E-07
2301 35 H/P 50 None 0.1899 None gnomAD-4.0.0 6.84097E-07
2301 35 H/R 50 rs746122611 0.1899 None gnomAD-2.1.1 3.18E-05
2301 35 H/R 50 rs746122611 0.1899 None gnomAD-4.0.0 5.47277E-06
2302 36 N/I 51 None 0.4407 None gnomAD-4.0.0 1.20032E-06
2303 37 D/E 52 None 0.9289 None gnomAD-4.0.0 1.20032E-06
2303 37 D/G 52 None 0.9289 None gnomAD-4.0.0 1.59064E-06
2303 37 D/H 52 rs779125886 0.9289 None gnomAD-2.1.1 7.97E-06
2303 37 D/H 52 rs779125886 0.9289 None gnomAD-4.0.0 1.4366E-05
2304 38 V/M 55 rs1412860664 0.5843 None gnomAD-2.1.1 3.98E-06
2304 38 V/M 55 rs1412860664 0.5843 None gnomAD-4.0.0 3.18128E-06
2305 39 E/D 56 rs778211562 0.3108 None gnomAD-3.1.2 6.57E-06
2305 39 E/D 56 rs778211562 0.3108 None gnomAD-4.0.0 6.57108E-06
2305 39 E/G 56 None 0.3108 None gnomAD-4.0.0 1.59062E-06
2305 39 E/K 56 rs367761468 0.3108 None gnomAD-2.1.1 3.98E-05
2305 39 E/K 56 rs367761468 0.3108 None gnomAD-3.1.2 3.29E-05
2305 39 E/K 56 rs367761468 0.3108 None gnomAD-4.0.0 7.68294E-05
2305 39 E/Q 56 rs367761468 0.3108 None gnomAD-2.1.1 1.2E-05
2305 39 E/Q 56 rs367761468 0.3108 None gnomAD-3.1.2 2.63E-05
2305 39 E/Q 56 rs367761468 0.3108 None gnomAD-4.0.0 1.11527E-05
2307 41 K/T 59 rs1327919896 0.7312 None gnomAD-2.1.1 3.18E-05
2307 41 K/T 59 rs1327919896 0.7312 None gnomAD-3.1.2 6.57E-06
2307 41 K/T 59 rs1327919896 0.7312 None gnomAD-4.0.0 6.57047E-06
2308 42 S/C 70 None 0.4201 None gnomAD-4.0.0 6.84089E-07
2308 42 S/P 70 None 0.4201 None gnomAD-4.0.0 3.18114E-06
2308 42 S/Y 70 rs577966527 0.4201 None gnomAD-2.1.1 1.42E-05
2308 42 S/Y 70 rs577966527 0.4201 None gnomAD-3.1.2 3.94E-05
2308 42 S/Y 70 rs577966527 0.4201 None 1000 genomes 1.99681E-04
2308 42 S/Y 70 rs577966527 0.4201 None gnomAD-4.0.0 3.40758E-05
2309 43 N/K 73 rs147580120 0.3790 None gnomAD-2.1.1 2.39E-05
2309 43 N/K 73 rs147580120 0.3790 None gnomAD-3.1.2 8.54E-05
2309 43 N/K 73 rs147580120 0.3790 None 1000 genomes 1.99681E-04
2309 43 N/K 73 rs147580120 0.3790 None gnomAD-4.0.0 1.17714E-05
2309 43 N/S 73 rs1405410487 0.3790 None gnomAD-2.1.1 3.98E-06
2309 43 N/S 73 rs1405410487 0.3790 None gnomAD-4.0.0 1.59055E-06
2311 45 K/N 115 None 0.1606 None gnomAD-4.0.0 1.20032E-06
2312 46 Y/C 121 None 0.1869 None gnomAD-4.0.0 1.20032E-06
2312 46 Y/H 121 None 0.1869 None gnomAD-4.0.0 6.00161E-06
2313 47 T/A 122 rs1399835400 0.3715 None gnomAD-4.0.0 1.20032E-06
2313 47 T/I 122 None 0.3715 None gnomAD-4.0.0 1.36817E-06
2313 47 T/R 122 rs794729579 0.3715 None gnomAD-2.1.1 3.98E-06
2313 47 T/R 122 rs794729579 0.3715 None gnomAD-4.0.0 2.73633E-06
2314 48 I/T 123 rs397517708 0.2424 None gnomAD-2.1.1 3.98E-06
2314 48 I/T 123 rs397517708 0.2424 None gnomAD-3.1.2 1.31E-05
2314 48 I/T 123 rs397517708 0.2424 None gnomAD-4.0.0 1.11528E-05
2314 48 I/V 123 rs2091945518 0.2424 None gnomAD-4.0.0 1.20032E-06
2315 49 T/A 125 None 0.5465 None gnomAD-4.0.0 1.20032E-06
2315 49 T/K 125 None 0.5465 None gnomAD-4.0.0 1.59058E-06
2316 50 S/C 127 None 0.5821 None gnomAD-4.0.0 1.20032E-06
2317 51 R/C 130 rs750101152 0.8485 None gnomAD-2.1.1 1.99E-05
2317 51 R/C 130 rs750101152 0.8485 None gnomAD-3.1.2 1.31E-05
2317 51 R/C 130 rs750101152 0.8485 None gnomAD-4.0.0 2.35448E-05
2317 51 R/H 130 rs764882950 0.8485 None gnomAD-2.1.1 6.02E-05
2317 51 R/H 130 rs764882950 0.8485 None gnomAD-3.1.2 7.23E-05
2317 51 R/H 130 rs764882950 0.8485 None gnomAD-4.0.0 2.72607E-05
2317 51 R/L 130 rs764882950 0.8485 None gnomAD-3.1.2 6.57E-06
2317 51 R/L 130 rs764882950 0.8485 None gnomAD-4.0.0 1.23921E-06
2317 51 R/S 130 rs750101152 0.8485 None gnomAD-3.1.2 6.57E-06
2317 51 R/S 130 rs750101152 0.8485 None gnomAD-4.0.0 6.57289E-06
2318 52 R/C 131 rs1487336498 0.7764 None gnomAD-2.1.1 7.97E-06
2318 52 R/C 131 rs1487336498 0.7764 None gnomAD-4.0.0 2.05225E-06
2318 52 R/H 131 rs761566436 0.7764 None gnomAD-2.1.1 4.96E-05
2318 52 R/H 131 rs761566436 0.7764 None gnomAD-3.1.2 3.29E-05
2318 52 R/H 131 rs761566436 0.7764 None gnomAD-4.0.0 4.33728E-05
2318 52 R/L 131 None 0.7764 None gnomAD-4.0.0 1.36817E-06
2320 54 R/C 135 rs776478343 0.3836 None gnomAD-2.1.1 2.79E-05
2320 54 R/C 135 rs776478343 0.3836 None gnomAD-3.1.2 3.29E-05
2320 54 R/C 135 rs776478343 0.3836 None gnomAD-4.0.0 3.09808E-05
2320 54 R/G 135 None 0.3836 None gnomAD-4.0.0 6.84089E-07
2320 54 R/H 135 rs374615369 0.3836 None gnomAD-2.1.1 7.44E-05
2320 54 R/H 135 rs374615369 0.3836 None gnomAD-3.1.2 7.89E-05
2320 54 R/H 135 rs374615369 0.3836 None gnomAD-4.0.0 8.54974E-05
2321 55 Q/K 136 None 0.1336 None gnomAD-4.0.0 1.20032E-06
2322 56 N/I 137 rs1283394684 0.2943 None gnomAD-2.1.1 3.98E-06
2322 56 N/I 137 rs1283394684 0.2943 None gnomAD-4.0.0 1.59057E-06
2324 58 T/M 139 rs760633130 0.2429 None gnomAD-2.1.1 7.08E-05
2324 58 T/M 139 rs760633130 0.2429 None gnomAD-3.1.2 5.92E-05
2324 58 T/M 139 rs760633130 0.2429 None gnomAD-4.0.0 4.08917E-05
2324 58 T/P 139 None 0.2429 None gnomAD-4.0.0 1.59057E-06
2325 59 V/G 140 None 0.1035 None gnomAD-4.0.0 1.59058E-06
2325 59 V/I 140 None 0.1035 None gnomAD-4.0.0 1.20032E-06
2327 61 D/G 143 rs1342961134 0.6190 None gnomAD-2.1.1 7.97E-06
2327 61 D/G 143 rs1342961134 0.6190 None gnomAD-3.1.2 1.31E-05
2327 61 D/G 143 rs1342961134 0.6190 None gnomAD-4.0.0 6.19565E-06
2327 61 D/V 143 None 0.6190 None gnomAD-4.0.0 6.84082E-07
2327 61 D/Y 143 rs1554002409 0.6190 None gnomAD-3.1.2 6.57E-06
2327 61 D/Y 143 rs1554002409 0.6190 None gnomAD-4.0.0 2.02994E-06
2328 62 V/A 144 rs997288701 0.0970 None gnomAD-3.1.2 6.57E-06
2328 62 V/A 144 rs997288701 0.0970 None gnomAD-4.0.0 6.57307E-06
2328 62 V/I 144 rs2091939887 0.0970 None gnomAD-3.1.2 6.57E-06
2328 62 V/I 144 rs2091939887 0.0970 None gnomAD-4.0.0 1.85875E-06
2330 64 K/N 146 None 0.8095 None gnomAD-4.0.0 2.05222E-06
2332 66 D/G 149 rs749655939 0.1466 None gnomAD-2.1.1 1.42E-05
2332 66 D/G 149 rs749655939 0.1466 None gnomAD-4.0.0 6.1567E-06
2332 66 D/N 149 rs771180382 0.1466 None gnomAD-2.1.1 1.2E-05
2332 66 D/N 149 rs771180382 0.1466 None gnomAD-3.1.2 6.57E-06
2332 66 D/N 149 rs771180382 0.1466 None gnomAD-4.0.0 7.68433E-06
2332 66 D/Y 149 rs771180382 0.1466 None gnomAD-2.1.1 3.98E-06
2332 66 D/Y 149 rs771180382 0.1466 None gnomAD-4.0.0 1.59057E-06
2333 67 Q/E 151 rs778177301 0.2821 None gnomAD-2.1.1 7.97E-06
2333 67 Q/E 151 rs778177301 0.2821 None gnomAD-4.0.0 2.73632E-06
2333 67 Q/R 151 None 0.2821 None gnomAD-4.0.0 1.20032E-06
2334 68 G/E 152 None 0.2228 None gnomAD-4.0.0 2.40064E-06
2334 68 G/R 152 None 0.2228 None gnomAD-4.0.0 1.59056E-06
2335 69 E/K 153 rs756497839 0.3812 None gnomAD-2.1.1 1.06E-05
2335 69 E/K 153 rs756497839 0.3812 None gnomAD-3.1.2 1.31E-05
2335 69 E/K 153 rs756497839 0.3812 None gnomAD-4.0.0 4.95636E-06
2337 71 S/G 155 None 0.1136 None gnomAD-4.0.0 1.59057E-06
2339 73 V/L 157 rs964493112 0.2191 None gnomAD-2.1.1 3.98E-06
2339 73 V/L 157 rs964493112 0.2191 None gnomAD-4.0.0 1.59059E-06
2341 75 D/N 159 rs781736462 0.8833 None gnomAD-2.1.1 1.59E-05
2341 75 D/N 159 rs781736462 0.8833 None gnomAD-3.1.2 1.97E-05
2341 75 D/N 159 rs781736462 0.8833 None gnomAD-4.0.0 7.43525E-06
2341 75 D/V 159 None 0.8833 None gnomAD-4.0.0 1.20032E-06
2341 75 D/Y 159 rs781736462 0.8833 None gnomAD-2.1.1 7.97E-06
2341 75 D/Y 159 rs781736462 0.8833 None gnomAD-4.0.0 8.20911E-06
2342 76 G/E 161 rs2091934798 0.6087 None gnomAD-3.1.2 6.57E-06
2342 76 G/E 161 rs2091934798 0.6087 None gnomAD-4.0.0 2.56151E-06
2342 76 G/R 161 rs749933813 0.6087 None gnomAD-2.1.1 1.77E-05
2342 76 G/R 161 rs749933813 0.6087 None gnomAD-3.1.2 1.31E-05
2342 76 G/R 161 rs749933813 0.6087 None gnomAD-4.0.0 4.33722E-06
2343 77 K/Q 166 None 0.3988 None gnomAD-4.0.0 6.84092E-07
2344 78 K/R 168 None 0.3564 None gnomAD-4.0.0 1.59062E-06
2345 79 T/A 169 None 0.0946 None gnomAD-4.0.0 6.15683E-06
2345 79 T/I 169 rs1273542789 0.0946 None gnomAD-2.1.1 3.98E-06
2345 79 T/I 169 rs1273542789 0.0946 None gnomAD-4.0.0 1.59063E-06
2345 79 T/S 169 rs1336710526 0.0946 None gnomAD-2.1.1 3.98E-06
2345 79 T/S 169 rs1336710526 0.0946 None gnomAD-4.0.0 1.36818E-06
2346 80 T/A 171 rs2091933090 0.4023 None gnomAD-3.1.2 6.57E-06
2346 80 T/A 171 rs2091933090 0.4023 None gnomAD-4.0.0 6.57194E-06
2346 80 T/N 171 None 0.4023 None gnomAD-4.0.0 1.36817E-06
2346 80 T/S 171 rs1204644512 0.4023 None gnomAD-2.1.1 3.19E-05
2346 80 T/S 171 rs1204644512 0.4023 None gnomAD-3.1.2 1.31E-05
2346 80 T/S 171 rs1204644512 0.4023 None gnomAD-4.0.0 1.85884E-06
2351 85 M/T 176 rs756899805 0.1308 None gnomAD-2.1.1 3.98E-06
2351 85 M/T 176 rs756899805 0.1308 None gnomAD-4.0.0 1.5906E-06