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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2356 1 I/F 1 None 0.5299 None gnomAD-4.0.0 1.59064E-06
2356 1 I/L 1 rs1561261813 0.5299 None gnomAD-2.1.1 4E-06
2356 1 I/M 1 None 0.5299 None gnomAD-4.0.0 6.84097E-07
2356 1 I/S 1 rs2091912353 0.5299 None gnomAD-4.0.0 4.77204E-06
2356 1 I/T 1 None 0.5299 None gnomAD-4.0.0 1.59068E-06
2358 3 I/L 3 rs1175538754 0.2487 None gnomAD-4.0.0 2.05229E-06
2358 3 I/M 3 rs753536718 0.2487 None gnomAD-2.1.1 4E-06
2358 3 I/M 3 rs753536718 0.2487 None gnomAD-4.0.0 1.59073E-06
2358 3 I/V 3 rs1175538754 0.2487 None gnomAD-2.1.1 3.99E-06
2358 3 I/V 3 rs1175538754 0.2487 None gnomAD-3.1.2 1.31E-05
2358 3 I/V 3 rs1175538754 0.2487 None gnomAD-4.0.0 1.85876E-06
2359 4 L/P 4 None 0.5168 None gnomAD-4.0.0 2.40064E-06
2360 5 Q/R 5 rs796903749 0.3031 None gnomAD-2.1.1 3.99E-06
2360 5 Q/R 5 rs796903749 0.3031 None gnomAD-3.1.2 1.31E-05
2360 5 Q/R 5 rs796903749 0.3031 None gnomAD-4.0.0 3.8421E-06
2361 6 G/A 7 None 0.3148 None gnomAD-4.0.0 1.36822E-06
2361 6 G/E 7 rs763682763 0.3148 None gnomAD-2.1.1 3.99E-06
2361 6 G/E 7 rs763682763 0.3148 None gnomAD-4.0.0 2.05232E-06
2361 6 G/V 7 None 0.3148 None gnomAD-4.0.0 6.84108E-07
2362 7 L/F 8 None 0.2080 None gnomAD-4.0.0 1.20032E-06
2364 9 D/H 11 rs1429499866 0.6144 None gnomAD-2.1.1 3.19E-05
2364 9 D/H 11 rs1429499866 0.6144 None gnomAD-3.1.2 6.57E-06
2364 9 D/H 11 rs1429499866 0.6144 None gnomAD-4.0.0 6.57402E-06
2364 9 D/N 11 None 0.6144 None gnomAD-4.0.0 1.59076E-06
2365 10 Q/H 13 rs755961734 0.3336 None gnomAD-2.1.1 3.99E-06
2367 12 V/D 16 rs1234347852 0.1522 None gnomAD-2.1.1 7.97E-06
2367 12 V/D 16 rs1234347852 0.1522 None gnomAD-4.0.0 1.3682E-06
2368 13 C/F 18 None 0.1017 None gnomAD-4.0.0 1.59067E-06
2368 13 C/G 18 rs1205174155 0.1017 None gnomAD-2.1.1 3.99E-06
2368 13 C/G 18 rs1205174155 0.1017 None gnomAD-4.0.0 1.59066E-06
2368 13 C/W 18 rs1485265360 0.1017 None gnomAD-4.0.0 1.59065E-06
2370 15 G/D 24 rs767484363 0.2268 None gnomAD-2.1.1 3.99E-06
2370 15 G/S 24 rs752484533 0.2268 None gnomAD-2.1.1 3.99E-06
2370 15 G/S 24 rs752484533 0.2268 None gnomAD-4.0.0 1.59067E-06
2371 16 D/E 25 None 0.3215 None gnomAD-4.0.0 1.59067E-06
2371 16 D/G 25 None 0.3215 None gnomAD-4.0.0 1.59064E-06
2372 17 I/T 26 None 0.4824 None gnomAD-4.0.0 2.40064E-06
2372 17 I/V 26 rs117777236 0.4824 None gnomAD-4.0.0 1.59064E-06
2373 18 V/F 28 rs759496021 0.1581 None gnomAD-2.1.1 1.77E-05
2373 18 V/F 28 rs759496021 0.1581 None gnomAD-3.1.2 3.29E-05
2373 18 V/F 28 rs759496021 0.1581 None gnomAD-4.0.0 1.42508E-05
2373 18 V/I 28 None 0.1581 None gnomAD-4.0.0 6.84097E-07
2373 18 V/L 28 None 0.1581 None gnomAD-4.0.0 6.84097E-07
2374 19 Q/H 29 rs774105753 0.4590 None gnomAD-2.1.1 3.98E-06
2374 19 Q/H 29 rs774105753 0.4590 None gnomAD-3.1.2 6.57E-06
2374 19 Q/H 29 rs774105753 0.4590 None gnomAD-4.0.0 7.68386E-06
2375 20 L/P 30 rs954220478 0.1429 None gnomAD-2.1.1 3.98E-06
2375 20 L/P 30 rs954220478 0.1429 None gnomAD-3.1.2 1.31E-05
2375 20 L/P 30 rs954220478 0.1429 None gnomAD-4.0.0 3.09795E-06
2375 20 L/V 30 None 0.1429 None gnomAD-4.0.0 1.20032E-06
2376 21 E/K 31 rs1299039335 0.2331 None gnomAD-2.1.1 3.98E-06
2376 21 E/K 31 rs1299039335 0.2331 None gnomAD-4.0.0 3.60097E-06
2378 23 K/R 34 rs727503690 0.2366 None gnomAD-2.1.1 3.98E-06
2378 23 K/R 34 rs727503690 0.2366 None gnomAD-4.0.0 6.36256E-06
2379 24 V/L 35 None 0.1246 None gnomAD-4.0.0 4.10452E-06
2382 27 E/G 41 rs773495315 0.4935 None gnomAD-2.1.1 8.15E-05
2382 27 E/G 41 rs773495315 0.4935 None gnomAD-3.1.2 8.54E-05
2382 27 E/G 41 rs773495315 0.4935 None gnomAD-4.0.0 2.47837E-05
2383 28 S/I 43 None 0.8766 None gnomAD-4.0.0 1.20032E-06
2383 28 S/N 43 rs2091903578 0.8766 None gnomAD-3.1.2 6.57E-06
2383 28 S/N 43 rs2091903578 0.8766 None gnomAD-4.0.0 2.02979E-06
2383 28 S/R 43 rs770123979 0.8766 None gnomAD-2.1.1 7.97E-06
2383 28 S/R 43 rs770123979 0.8766 None gnomAD-3.1.2 1.97E-05
2383 28 S/R 43 rs770123979 0.8766 None gnomAD-4.0.0 6.81487E-06
2385 30 E/G 45 rs1409894500 1.0082 None gnomAD-2.1.1 3.98E-06
2385 30 E/G 45 rs1409894500 1.0082 None gnomAD-4.0.0 1.59058E-06
2385 30 E/K 45 rs762331136 1.0082 None gnomAD-2.1.1 3.98E-06
2385 30 E/K 45 rs762331136 1.0082 None gnomAD-4.0.0 8.40225E-06
2385 30 E/V 45 rs1409894500 1.0082 None gnomAD-3.1.2 6.57E-06
2385 30 E/V 45 rs1409894500 1.0082 None gnomAD-4.0.0 6.57022E-06
2386 31 G/D 46 rs142926566 0.2479 None gnomAD-2.1.1 3.54E-05
2386 31 G/D 46 rs142926566 0.2479 None gnomAD-3.1.2 7.89E-05
2386 31 G/D 46 rs142926566 0.2479 None gnomAD-4.0.0 2.16843E-05
2386 31 G/S 46 rs777101912 0.2479 None gnomAD-2.1.1 8.5E-05
2386 31 G/S 46 rs777101912 0.2479 None gnomAD-3.1.2 6.57E-06
2386 31 G/S 46 rs777101912 0.2479 None gnomAD-4.0.0 1.23918E-05
2387 32 V/I 47 rs377691143 0.3643 None gnomAD-2.1.1 3.19E-05
2387 32 V/I 47 rs377691143 0.3643 None gnomAD-3.1.2 3.29E-05
2387 32 V/I 47 rs377691143 0.3643 None gnomAD-4.0.0 1.85877E-05
2389 34 M/K 49 rs748735241 0.2194 None gnomAD-2.1.1 7.97E-06
2389 34 M/K 49 rs748735241 0.2194 None gnomAD-3.1.2 6.57E-06
2389 34 M/K 49 rs748735241 0.2194 None gnomAD-4.0.0 7.68366E-06
2389 34 M/R 49 None 0.2194 None gnomAD-4.0.0 6.36231E-06
2390 35 K/R 50 rs777470064 0.1678 None gnomAD-2.1.1 3.98E-06
2390 35 K/R 50 rs777470064 0.1678 None gnomAD-4.0.0 3.1811E-06
2392 37 G/S 52 rs4894048 0.4956 None gnomAD-2.1.1 6.77589E-02
2392 37 G/S 52 rs4894048 0.4956 None gnomAD-3.1.2 5.95038E-02
2392 37 G/S 52 rs4894048 0.4956 None 1000 genomes 8.74601E-02
2392 37 G/S 52 rs4894048 0.4956 None gnomAD-4.0.0 4.05323E-02
2393 38 Q/R 55 rs754687695 0.7965 None gnomAD-2.1.1 1.2E-05
2393 38 Q/R 55 rs754687695 0.7965 None gnomAD-4.0.0 1.16293E-05
2394 39 E/Q 56 rs537269762 0.4994 None gnomAD-2.1.1 3.98E-06
2394 39 E/Q 56 rs537269762 0.4994 None gnomAD-3.1.2 4.6E-05
2394 39 E/Q 56 rs537269762 0.4994 None 1000 genomes 1.99681E-04
2394 39 E/Q 56 rs537269762 0.4994 None gnomAD-4.0.0 1.53653E-05
2394 39 E/V 56 rs929251010 0.4994 None gnomAD-4.0.0 1.59055E-06
2395 40 V/A 58 None 0.2070 None gnomAD-4.0.0 6.84081E-07
2395 40 V/E 58 rs1193803834 0.2070 None gnomAD-4.0.0 2.73632E-06
2396 41 Q/L 59 None 0.4926 None gnomAD-4.0.0 1.20032E-06
2397 42 P/L 70 None 0.5615 None gnomAD-4.0.0 1.20032E-06
2397 42 P/R 70 None 0.5615 None gnomAD-4.0.0 1.20032E-06
2398 43 S/I 73 rs766170235 0.2896 None gnomAD-2.1.1 3.98E-06
2398 43 S/I 73 rs766170235 0.2896 None gnomAD-3.1.2 6.57E-06
2398 43 S/I 73 rs766170235 0.2896 None gnomAD-4.0.0 3.84197E-06
2399 44 D/G 109 rs750522225 1.0963 None gnomAD-2.1.1 3.98E-06
2399 44 D/G 109 rs750522225 1.0963 None gnomAD-4.0.0 3.18106E-06
2399 44 D/N 109 rs763147469 1.0963 None gnomAD-2.1.1 3.98E-06
2399 44 D/N 109 rs763147469 1.0963 None gnomAD-4.0.0 1.59058E-06
2400 45 R/G 115 rs765593704 0.2842 None gnomAD-2.1.1 3.98E-06
2400 45 R/G 115 rs765593704 0.2842 None gnomAD-4.0.0 3.1811E-06
2400 45 R/K 115 None 0.2842 None gnomAD-4.0.0 3.18109E-06
2400 45 R/S 115 None 0.2842 None gnomAD-4.0.0 1.59056E-06
2401 46 V/F 121 rs762102248 0.1553 None gnomAD-2.1.1 3.99E-06
2401 46 V/F 121 rs762102248 0.1553 None gnomAD-4.0.0 3.18112E-06
2401 46 V/I 121 rs762102248 0.1553 None gnomAD-2.1.1 3.99E-06
2401 46 V/I 121 rs762102248 0.1553 None gnomAD-4.0.0 4.77168E-06
2402 47 H/L 122 rs776956593 0.3525 None gnomAD-2.1.1 3.98E-06
2402 47 H/L 122 rs776956593 0.3525 None gnomAD-4.0.0 1.59055E-06
2403 48 I/T 123 rs760895168 0.3415 None gnomAD-2.1.1 3.98E-06
2403 48 I/T 123 rs760895168 0.3415 None gnomAD-4.0.0 9.57706E-06
2403 48 I/V 123 rs1415643045 0.3415 None gnomAD-2.1.1 3.98E-06
2403 48 I/V 123 rs1415643045 0.3415 None gnomAD-4.0.0 1.36815E-06
2405 50 I/M 127 None 0.5230 None gnomAD-4.0.0 1.59053E-06
2405 50 I/T 127 rs776126188 0.5230 None gnomAD-2.1.1 3.99E-06
2405 50 I/T 127 rs776126188 0.5230 None gnomAD-4.0.0 4.10443E-06
2405 50 I/V 127 rs1055161708 0.5230 None gnomAD-4.0.0 1.36814E-06
2406 51 D/E 130 rs772454567 0.6241 None gnomAD-2.1.1 3.99E-06
2406 51 D/E 130 rs772454567 0.6241 None gnomAD-4.0.0 1.59052E-06
2406 51 D/G 130 rs2091891924 0.6241 None gnomAD-3.1.2 6.57E-06
2406 51 D/G 130 rs2091891924 0.6241 None gnomAD-4.0.0 2.56126E-06
2406 51 D/N 130 None 0.6241 None gnomAD-4.0.0 1.59052E-06
2407 52 K/E 131 None 0.5542 None gnomAD-4.0.0 1.59052E-06
2407 52 K/R 131 rs748869225 0.5542 None gnomAD-2.1.1 1.2E-05
2407 52 K/R 131 rs748869225 0.5542 None gnomAD-4.0.0 2.73629E-06
2408 53 Q/R 134 rs777244038 0.2966 None gnomAD-2.1.1 5.18E-05
2408 53 Q/R 134 rs777244038 0.2966 None gnomAD-3.1.2 6.57E-06
2408 53 Q/R 134 rs777244038 0.2966 None gnomAD-4.0.0 3.09798E-05
2409 54 S/C 135 rs769246937 0.1804 None gnomAD-2.1.1 3.99E-06
2409 54 S/C 135 rs769246937 0.1804 None gnomAD-4.0.0 6.84073E-07
2409 54 S/Y 135 rs769246937 0.1804 None gnomAD-2.1.1 3.99E-06
2409 54 S/Y 135 rs769246937 0.1804 None gnomAD-4.0.0 6.84073E-06
2410 55 H/R 136 rs747828487 0.1703 None gnomAD-2.1.1 7.97E-06
2410 55 H/R 136 rs747828487 0.1703 None gnomAD-3.1.2 1.32E-05
2410 55 H/R 136 rs747828487 0.1703 None gnomAD-4.0.0 4.96938E-06
2411 56 M/V 137 rs1333177270 0.2161 None gnomAD-2.1.1 3.99E-06
2411 56 M/V 137 rs1333177270 0.2161 None gnomAD-4.0.0 1.36815E-06
2412 57 L/M 138 None 0.0889 None gnomAD-4.0.0 1.59053E-06
2412 57 L/R 138 None 0.0889 None gnomAD-4.0.0 1.59052E-06
2413 58 L/F 139 rs780754758 0.3114 None gnomAD-2.1.1 3.99E-06
2413 58 L/F 139 rs780754758 0.3114 None gnomAD-4.0.0 1.36815E-06
2414 59 I/L 140 rs754815454 0.1272 None gnomAD-2.1.1 7.98E-06
2414 59 I/L 140 rs754815454 0.1272 None gnomAD-4.0.0 1.36816E-06
2414 59 I/V 140 None 0.1272 None gnomAD-4.0.0 4.10447E-06
2415 60 E/D 141 None 0.4313 None gnomAD-4.0.0 3.18109E-06
2415 60 E/V 141 rs1462312746 0.4313 None gnomAD-3.1.2 1.31E-05
2415 60 E/V 141 rs1462312746 0.4313 None gnomAD-4.0.0 4.95669E-06
2416 61 D/G 143 rs780102382 0.4443 None gnomAD-2.1.1 3.99E-06
2416 61 D/G 143 rs780102382 0.4443 None gnomAD-4.0.0 2.7363E-06
2416 61 D/N 143 rs1383990376 0.4443 None gnomAD-2.1.1 3.99E-06
2416 61 D/N 143 rs1383990376 0.4443 None gnomAD-3.1.2 6.57E-06
2416 61 D/N 143 rs1383990376 0.4443 None gnomAD-4.0.0 3.84175E-06
2417 62 M/I 144 rs765426928 0.0791 None gnomAD-2.1.1 3.99E-06
2417 62 M/I 144 rs765426928 0.0791 None gnomAD-4.0.0 1.59057E-06
2417 62 M/T 144 rs758233166 0.0791 None gnomAD-2.1.1 3.99E-06
2418 63 T/A 145 None 0.2225 None gnomAD-4.0.0 1.59055E-06
2420 65 E/G 148 None 0.8602 None gnomAD-4.0.0 1.20032E-06
2421 66 D/G 149 rs1181070487 0.1851 None gnomAD-2.1.1 3.18E-05
2421 66 D/G 149 rs1181070487 0.1851 None gnomAD-3.1.2 6.57E-06
2421 66 D/G 149 rs1181070487 0.1851 None gnomAD-4.0.0 2.02981E-06
2422 67 A/V 151 rs1365893831 0.2417 None gnomAD-3.1.2 6.57E-06
2422 67 A/V 151 rs1365893831 0.2417 None gnomAD-4.0.0 6.57376E-06
2423 68 G/A 152 None 0.1797 None gnomAD-4.0.0 1.5906E-06
2423 68 G/R 152 None 0.1797 None gnomAD-4.0.0 2.40064E-06
2424 69 N/D 153 None 0.4238 None gnomAD-4.0.0 1.36816E-06
2424 69 N/S 153 rs927165447 0.4238 None gnomAD-2.1.1 3.99E-06
2424 69 N/S 153 rs927165447 0.4238 None gnomAD-4.0.0 3.18114E-06
2426 71 S/C 155 None 0.2096 None gnomAD-4.0.0 1.20032E-06
2428 73 T/A 157 None 0.2688 None gnomAD-4.0.0 1.20032E-06
2428 73 T/I 157 rs1372427640 0.2688 None gnomAD-2.1.1 3.99E-06
2428 73 T/I 157 rs1372427640 0.2688 None gnomAD-3.1.2 6.57E-06
2428 73 T/I 157 rs1372427640 0.2688 None gnomAD-4.0.0 3.842E-06
2428 73 T/N 157 None 0.2688 None gnomAD-3.1.2 6.57E-06
2428 73 T/N 157 None 0.2688 None gnomAD-4.0.0 6.57272E-06
2429 74 I/L 158 None 0.1285 None gnomAD-4.0.0 1.59059E-06
2429 74 I/S 158 None 0.1285 None gnomAD-4.0.0 1.59059E-06
2429 74 I/T 158 rs148266341 0.1285 None gnomAD-4.0.0 1.59059E-06
2430 75 P/L 159 rs775687221 0.5449 None gnomAD-2.1.1 7.99E-06
2430 75 P/L 159 rs775687221 0.5449 None gnomAD-4.0.0 6.36227E-06
2430 75 P/S 159 rs761169279 0.5449 None gnomAD-2.1.1 3.99E-06
2430 75 P/S 159 rs761169279 0.5449 None gnomAD-4.0.0 1.36816E-06
2430 75 P/T 159 rs761169279 0.5449 None gnomAD-2.1.1 1.06E-05
2430 75 P/T 159 rs761169279 0.5449 None gnomAD-3.1.2 1.31E-05
2430 75 P/T 159 rs761169279 0.5449 None gnomAD-4.0.0 2.47831E-06
2431 76 A/S 161 None 0.6021 None gnomAD-4.0.0 1.36816E-06
2432 77 L/F 162 rs571572592 0.4429 None gnomAD-2.1.1 7.99E-06
2432 77 L/F 162 rs571572592 0.4429 None 1000 genomes 1.99681E-04
2432 77 L/F 162 rs571572592 0.4429 None gnomAD-4.0.0 6.56694E-06
2434 79 L/H 164 rs774798625 0.3460 None gnomAD-2.1.1 3.99E-06
2434 79 L/H 164 rs774798625 0.3460 None gnomAD-4.0.0 3.42042E-06
2434 79 L/R 164 rs774798625 0.3460 None gnomAD-2.1.1 7.99E-06
2434 79 L/R 164 rs774798625 0.3460 None gnomAD-3.1.2 1.31E-05
2434 79 L/R 164 rs774798625 0.3460 None gnomAD-4.0.0 4.33712E-06
2436 81 T/I 168 rs769296240 0.1786 None gnomAD-2.1.1 7.99E-06
2436 81 T/I 168 rs769296240 0.1786 None gnomAD-4.0.0 4.7718E-06
2437 82 S/T 169 None 0.4746 None gnomAD-4.0.0 1.59061E-06