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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

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
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