Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

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
21366 1 E/K 1 rs2049080412 0.4732 None gnomAD-4.0.0 3.21062E-06
21367 2 P/T 2 None 0.1041 None gnomAD-4.0.0 6.86244E-07
21367 2 P/L 2 rs754581725 0.1041 None gnomAD-2.1.1 2.87E-05
21367 2 P/L 2 rs754581725 0.1041 None gnomAD-3.1.2 6.58E-06
21367 2 P/L 2 rs754581725 0.1041 None gnomAD-4.0.0 8.70051E-06
21368 3 D/Y 3 rs1462401348 0.3156 None gnomAD-2.1.1 8.14E-06
21368 3 D/Y 3 rs1462401348 0.3156 None gnomAD-4.0.0 1.37076E-06
21368 3 D/N 3 rs1462401348 0.3156 None gnomAD-4.0.0 6.85379E-07
21368 3 D/H 3 None 0.3156 None gnomAD-4.0.0 6.85379E-07
21369 4 P/R 4 rs778476727 0.1498 None gnomAD-2.1.1 4.06E-06
21369 4 P/R 4 rs778476727 0.1498 None gnomAD-4.0.0 1.59662E-06
21369 4 P/S 4 rs1388682620 0.1498 None gnomAD-2.1.1 3.19E-05
21369 4 P/S 4 rs1388682620 0.1498 None gnomAD-3.1.2 6.58E-06
21369 4 P/S 4 rs1388682620 0.1498 None gnomAD-4.0.0 6.58181E-06
21370 5 P/L 5 rs2049075418 0.0827 None gnomAD-3.1.2 6.58E-06
21370 5 P/L 5 rs2049075418 0.0827 None gnomAD-4.0.0 1.86122E-06
21371 6 R/G 6 rs748901968 0.5399 None gnomAD-3.1.2 1.97E-05
21371 6 R/G 6 rs748901968 0.5399 None gnomAD-4.0.0 1.30258E-05
21371 6 R/S 6 rs2049074403 0.5399 None gnomAD-4.0.0 1.59492E-06
21371 6 R/T 6 None 0.5399 None gnomAD-4.0.0 1.59501E-06
21372 7 K/R 7 rs1186477441 0.6010 None gnomAD-2.1.1 3.19E-05
21372 7 K/R 7 rs1186477441 0.6010 None gnomAD-4.0.0 1.36952E-06
21372 7 K/I 7 None 0.6010 None gnomAD-4.0.0 6.84762E-07
21373 8 L/F 9 rs753245626 0.1479 None gnomAD-2.1.1 4.04E-05
21373 8 L/F 9 rs753245626 0.1479 None gnomAD-4.0.0 2.12238E-05
21373 8 L/S 9 rs1435172600 0.1479 None gnomAD-3.1.2 6.58E-06
21373 8 L/S 9 rs1435172600 0.1479 None gnomAD-4.0.0 3.72061E-06
21375 10 V/M 12 rs371670651 0.2560 None gnomAD-2.1.1 2.82E-05
21375 10 V/M 12 rs371670651 0.2560 None gnomAD-3.1.2 7.23E-05
21375 10 V/M 12 rs371670651 0.2560 None gnomAD-4.0.0 2.1083E-05
21375 10 V/L 12 rs371670651 0.2560 None gnomAD-4.0.0 6.84636E-07
21376 11 T/A 13 rs368683686 0.3943 None gnomAD-2.1.1 4.03E-06
21376 11 T/A 13 rs368683686 0.3943 None gnomAD-3.1.2 6.58E-06
21376 11 T/A 13 rs368683686 0.3943 None gnomAD-4.0.0 8.12071E-06
21376 11 T/S 13 rs1437293840 0.3943 None gnomAD-2.1.1 4.03E-06
21376 11 T/S 13 rs1437293840 0.3943 None gnomAD-4.0.0 4.10739E-06
21380 15 K/R 17 rs2049068326 0.3686 None gnomAD-4.0.0 2.05359E-06
21380 15 K/E 17 None 0.3686 None gnomAD-4.0.0 1.20032E-06
21381 16 N/S 18 rs2154181598 0.3463 None gnomAD-3.1.2 6.58E-06
21381 16 N/S 18 rs2154181598 0.3463 None gnomAD-4.0.0 6.57203E-06
21382 17 S/I 19 rs759348008 0.1283 None gnomAD-2.1.1 4.02E-06
21382 17 S/I 19 rs759348008 0.1283 None gnomAD-4.0.0 1.59289E-06
21383 18 A/T 20 rs727503582 0.1326 None gnomAD-2.1.1 4.02E-06
21383 18 A/T 20 rs727503582 0.1326 None gnomAD-3.1.2 6.58E-06
21383 18 A/T 20 rs727503582 0.1326 None gnomAD-4.0.0 2.72794E-05
21384 19 T/I 21 rs2049065358 0.1668 None gnomAD-3.1.2 6.58E-06
21384 19 T/I 21 rs2049065358 0.1668 None gnomAD-4.0.0 6.5767E-06
21386 21 A/V 23 None 0.1464 None gnomAD-4.0.0 1.36897E-06
21387 22 W/C 24 None 0.0846 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.4588 None gnomAD-4.0.0 6.84484E-07
21388 23 L/S 25 None 0.4588 None gnomAD-4.0.0 1.59276E-06
21389 24 P/T 26 rs2049063426 0.3923 None gnomAD-3.1.2 6.58E-06
21389 24 P/T 26 rs2049063426 0.3923 None gnomAD-4.0.0 6.57756E-06
21390 25 P/A 27 None 0.1416 None gnomAD-4.0.0 1.20032E-06
21390 25 P/L 27 rs763262121 0.1416 None gnomAD-2.1.1 1.07E-05
21390 25 P/L 27 rs763262121 0.1416 None gnomAD-3.1.2 1.32E-05
21390 25 P/L 27 rs763262121 0.1416 None gnomAD-4.0.0 1.28225E-05
21391 26 L/R 28 None 0.8469 None gnomAD-4.0.0 1.59276E-06
21392 27 R/P 29 rs777176324 0.6937 None gnomAD-3.1.2 6.58E-06
21392 27 R/P 29 rs777176324 0.6937 None gnomAD-4.0.0 6.57626E-06
21392 27 R/L 29 rs777176324 0.6937 None gnomAD-2.1.1 4.02E-06
21392 27 R/L 29 rs777176324 0.6937 None gnomAD-4.0.0 1.36899E-06
21392 27 R/H 29 None 0.6937 None gnomAD-2.1.1 6.43E-05
21392 27 R/H 29 None 0.6937 None gnomAD-3.1.2 6.58E-05
21392 27 R/H 29 None 0.6937 None gnomAD-4.0.0 5.1457E-05
21392 27 R/G 29 None 0.6937 None gnomAD-4.0.0 6.84489E-07
21392 27 R/C 29 rs72646859 0.6937 None gnomAD-2.1.1 6.1088E-04
21392 27 R/C 29 rs72646859 0.6937 None gnomAD-3.1.2 5.39296E-04
21392 27 R/C 29 rs72646859 0.6937 None gnomAD-4.0.0 8.00317E-04
21393 28 D/H 30 None 0.2764 None gnomAD-4.0.0 1.59277E-06
21394 29 G/R 31 None 0.3763 None gnomAD-4.0.0 1.59279E-06
21395 30 G/A 32 rs769161359 0.6251 None gnomAD-2.1.1 4.02E-06
21395 30 G/A 32 rs769161359 0.6251 None gnomAD-3.1.2 6.58E-06
21395 30 G/A 32 rs769161359 0.6251 None gnomAD-4.0.0 1.23992E-06
21395 30 G/D 32 None 0.6251 None gnomAD-4.0.0 1.36897E-06
21395 30 G/S 32 rs199863338 0.6251 None gnomAD-4.0.0 6.84486E-07
21395 30 G/V 32 rs769161359 0.6251 None gnomAD-4.0.0 4.7914E-06
21396 31 A/G 33 None 0.2487 None gnomAD-2.1.1 4.02E-06
21396 31 A/G 33 None 0.2487 None gnomAD-4.0.0 2.05348E-06
21396 31 A/V 33 rs747305122 0.2487 None gnomAD-2.1.1 4.02E-06
21396 31 A/V 33 rs747305122 0.2487 None gnomAD-4.0.0 6.84492E-07
21398 33 I/S 35 rs727504754 0.1782 None gnomAD-2.1.1 3.22E-05
21398 33 I/S 35 rs727504754 0.1782 None gnomAD-4.0.0 1.75201E-05
21399 34 D/N 36 rs749018114 0.5618 None gnomAD-2.1.1 2.41E-05
21399 34 D/N 36 rs749018114 0.5618 None gnomAD-3.1.2 3.29E-05
21399 34 D/N 36 rs749018114 0.5618 None gnomAD-4.0.0 2.66592E-05
21400 35 G/S 37 rs755708220 0.1375 None gnomAD-2.1.1 4.02E-06
21401 36 Y/C 38 None 0.1062 None gnomAD-4.0.0 1.59274E-06
21401 36 Y/H 38 None 0.1062 None gnomAD-4.0.0 1.59272E-06
21402 37 I/V 39 rs1157697777 0.2784 None gnomAD-2.1.1 4.02E-06
21402 37 I/V 39 rs1157697777 0.2784 None gnomAD-4.0.0 4.77809E-06
21403 38 T/I 40 rs2042996 0.1010 None 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1010 None gnomAD-2.1.1 3.50373E-01
21403 38 T/I 40 rs2042996 0.1010 None gnomAD-3.1.2 3.56988E-01
21403 38 T/I 40 rs2042996 0.1010 None gnomAD-4.0.0 2.75244E-01
21404 39 S/T 41 None 0.0680 None gnomAD-4.0.0 1.59264E-06
21404 39 S/R 41 rs1159259078 0.0680 None gnomAD-2.1.1 4.02E-06
21404 39 S/R 41 rs1159259078 0.0680 None gnomAD-4.0.0 1.59262E-06
21407 42 E/G 44 rs1413732448 0.2712 None gnomAD-3.1.2 6.58E-06
21407 42 E/G 44 rs1413732448 0.2712 None gnomAD-4.0.0 6.09034E-06
21408 43 E/K 50 None 0.2581 None gnomAD-4.0.0 1.59261E-06
21409 44 E/K 51 None 0.3207 None gnomAD-4.0.0 1.20033E-06
21412 47 A/S 62 None 0.2396 None gnomAD-4.0.0 1.20032E-06
21413 48 D/G 63 rs375659466 0.7228 None 1000 genomes 1.99681E-04
21413 48 D/G 63 rs375659466 0.7228 None gnomAD-2.1.1 1.07E-05
21413 48 D/G 63 rs375659466 0.7228 None gnomAD-3.1.2 2.63E-05
21413 48 D/G 63 rs375659466 0.7228 None gnomAD-4.0.0 4.4011E-05
21414 49 R/C 64 rs373478378 0.7493 None gnomAD-2.1.1 4.02E-06
21414 49 R/C 64 rs373478378 0.7493 None gnomAD-3.1.2 6.58E-06
21414 49 R/C 64 rs373478378 0.7493 None gnomAD-4.0.0 1.85986E-06
21414 49 R/H 64 rs727504690 0.7493 None gnomAD-2.1.1 2.41E-05
21414 49 R/H 64 rs727504690 0.7493 None gnomAD-3.1.2 2.63E-05
21414 49 R/H 64 rs727504690 0.7493 None gnomAD-4.0.0 1.11591E-05
21415 50 W/C 65 rs369299712 0.2119 None gnomAD-2.1.1 8.04E-06
21415 50 W/C 65 rs369299712 0.2119 None gnomAD-3.1.2 6.58E-06
21415 50 W/C 65 rs369299712 0.2119 None gnomAD-4.0.0 1.30187E-05
21416 51 T/I 66 None 0.3011 None gnomAD-4.0.0 1.59261E-06
21417 52 E/D 67 rs879230654 0.6868 None gnomAD-4.0.0 1.36892E-06
21417 52 E/Q 67 None 0.6868 None gnomAD-4.0.0 6.84448E-07
21418 53 Y/S 68 rs573165930 0.2096 None 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2096 None gnomAD-2.1.1 5.36E-05
21418 53 Y/S 68 rs573165930 0.2096 None gnomAD-3.1.2 3.95E-05
21418 53 Y/S 68 rs573165930 0.2096 None gnomAD-4.0.0 1.54971E-05
21420 55 V/L 75 None 0.6524 None gnomAD-4.0.0 1.59254E-06
21420 55 V/A 75 rs765213969 0.6524 None gnomAD-2.1.1 4.02E-06
21420 55 V/A 75 rs765213969 0.6524 None gnomAD-3.1.2 6.58E-06
21420 55 V/A 75 rs765213969 0.6524 None gnomAD-4.0.0 6.58007E-06
21422 57 K/N 83 rs758963173 0.7077 None gnomAD-4.0.0 4.10669E-06
21422 57 K/R 83 None 0.7077 None gnomAD-4.0.0 1.20032E-06
21423 58 D/Y 88 rs761820626 0.7548 None gnomAD-2.1.1 4.02E-06
21423 58 D/Y 88 rs761820626 0.7548 None gnomAD-3.1.2 6.58E-06
21423 58 D/Y 88 rs761820626 0.7548 None gnomAD-4.0.0 1.23989E-06
21424 59 L/V 89 None 0.3067 None gnomAD-4.0.0 1.36889E-06
21424 59 L/Q 89 None 0.3067 None gnomAD-4.0.0 1.20032E-06
21426 61 L/F 91 rs1235011285 0.0843 None gnomAD-2.1.1 4.02E-06
21426 61 L/F 91 rs1235011285 0.0843 None gnomAD-3.1.2 6.58E-06
21426 61 L/F 91 rs1235011285 0.0843 None gnomAD-4.0.0 5.12877E-06
21428 63 V/F 93 None 0.0812 None gnomAD-4.0.0 1.59263E-06
21428 63 V/A 93 rs1576014979 0.0812 None gnomAD-3.1.2 6.58E-06
21428 63 V/A 93 rs1576014979 0.0812 None gnomAD-4.0.0 2.56421E-06
21429 64 T/I 94 rs1276697618 0.3502 None gnomAD-2.1.1 3.19E-05
21429 64 T/I 94 rs1276697618 0.3502 None gnomAD-3.1.2 6.58E-06
21429 64 T/I 94 rs1276697618 0.3502 None gnomAD-4.0.0 2.56412E-06
21430 65 G/A 96 rs1186264863 0.5009 None gnomAD-3.1.2 6.58E-06
21430 65 G/A 96 rs1186264863 0.5009 None gnomAD-4.0.0 6.57601E-06
21430 65 G/D 96 None 0.5009 None gnomAD-4.0.0 3.18524E-06
21430 65 G/S 96 rs2049038476 0.5009 None gnomAD-4.0.0 1.59258E-06
21432 67 K/R 98 rs1297397587 0.7005 None gnomAD-2.1.1 4.02E-06
21432 67 K/R 98 rs1297397587 0.7005 None gnomAD-3.1.2 1.97E-05
21432 67 K/R 98 rs1297397587 0.7005 None gnomAD-4.0.0 7.43908E-06
21434 69 G/R 100 rs1397887723 0.3799 None gnomAD-2.1.1 4.02E-06
21434 69 G/R 100 rs1397887723 0.3799 None gnomAD-3.1.2 6.58E-06
21434 69 G/R 100 rs1397887723 0.3799 None gnomAD-4.0.0 2.56431E-06
21434 69 G/E 100 None 0.3799 None gnomAD-4.0.0 1.36892E-06
21435 70 K/Q 102 None 0.1183 None gnomAD-4.0.0 1.59261E-06
21438 73 K/E 105 None 0.4052 None gnomAD-4.0.0 1.59257E-06
21442 77 A/V 109 rs769108408 0.0838 None gnomAD-2.1.1 8.06E-06
21442 77 A/V 109 rs769108408 0.0838 None gnomAD-3.1.2 2.63E-05
21442 77 A/V 109 rs769108408 0.0838 None gnomAD-4.0.0 1.92188E-05
21442 77 A/T 109 rs886042279 0.0838 None gnomAD-2.1.1 4.03E-06
21442 77 A/T 109 rs886042279 0.0838 None gnomAD-4.0.0 3.18522E-06
21444 79 R/I 111 rs775693601 0.4262 None gnomAD-2.1.1 4.03E-06
21444 79 R/I 111 rs775693601 0.4262 None gnomAD-4.0.0 1.59253E-06
21444 79 R/K 111 rs775693601 0.4262 None gnomAD-2.1.1 4.03E-06
21444 79 R/K 111 rs775693601 0.4262 None gnomAD-4.0.0 1.59253E-06
21446 81 A/V 113 None 0.5936 None gnomAD-4.0.0 1.59252E-06
21447 82 V/A 114 rs2049030119 0.5569 None gnomAD-3.1.2 6.58E-06
21447 82 V/A 114 rs2049030119 0.5569 None gnomAD-4.0.0 3.09964E-06
21448 83 G/A 115 None 0.1345 None gnomAD-4.0.0 1.20032E-06
21449 84 V/A 117 rs748888420 0.3324 None gnomAD-2.1.1 1.07E-05
21449 84 V/A 117 rs748888420 0.3324 None gnomAD-3.1.2 1.98E-05
21449 84 V/A 117 rs748888420 0.3324 None gnomAD-4.0.0 6.4118E-06
21449 84 V/I 117 rs2049029716 0.3324 None gnomAD-3.1.2 6.58E-06
21449 84 V/I 117 rs2049029716 0.3324 None gnomAD-4.0.0 2.03005E-06
21450 85 S/T 118 None 0.0735 None gnomAD-4.0.0 1.20032E-06
21450 85 S/R 118 None 0.0735 None gnomAD-4.0.0 3.60097E-06
21451 86 L/F 119 rs1576014111 0.6866 None gnomAD-4.0.0 6.84458E-07
21453 88 R/G 121 rs1014690727 0.2751 None gnomAD-2.1.1 4.03E-06
21453 88 R/G 121 rs1014690727 0.2751 None gnomAD-3.1.2 1.97E-05
21453 88 R/G 121 rs1014690727 0.2751 None gnomAD-4.0.0 8.97411E-06
21453 88 R/K 121 None 0.2751 None gnomAD-4.0.0 1.36894E-06
21453 88 R/T 121 rs765575975 0.2751 None gnomAD-4.0.0 1.36894E-06
21454 89 E/A 122 rs373183196 0.3138 None gnomAD-2.1.1 4.03E-06
21456 91 E/K 124 rs1432709459 0.6528 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.2462 None gnomAD-4.0.0 1.59274E-06
21457 92 G/E 125 rs2049025749 0.2462 None gnomAD-4.0.0 1.20032E-06
21460 95 E/K 129 None 0.3525 None gnomAD-4.0.0 1.59286E-06
21461 96 A/V 130 None 0.0853 None gnomAD-4.0.0 1.59305E-06
21462 97 K/R 131 rs1275082313 0.4196 None gnomAD-2.1.1 4.04E-06
21462 97 K/R 131 rs1275082313 0.4196 None gnomAD-4.0.0 1.36914E-06
21462 97 K/T 131 None 0.4196 None gnomAD-4.0.0 6.8457E-07
21463 98 E/K 132 rs1214364121 1.0260 None gnomAD-2.1.1 4.04E-06