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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 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 Q L L P P K I L M P E Q I T I K A G K K L R I E A H V Y G K P H P T C K W K K G E D E V V T S S H L A V H K A D S S S I L I I K D V T R K D S G Y Y S L T A E N S S G T D T Q K I K V V V M
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 0.5834 None gnomAD-4.0.0 3.21062E-06
21367 2 P/T 2 None 0.1057 None gnomAD-4.0.0 6.86244E-07
21367 2 P/L 2 rs754581725 0.1057 None gnomAD-2.1.1 2.87E-05
21367 2 P/L 2 rs754581725 0.1057 None gnomAD-3.1.2 6.58E-06
21367 2 P/L 2 rs754581725 0.1057 None gnomAD-4.0.0 8.70051E-06
21368 3 D/Y 3 rs1462401348 0.3401 None gnomAD-2.1.1 8.14E-06
21368 3 D/Y 3 rs1462401348 0.3401 None gnomAD-4.0.0 1.37076E-06
21368 3 D/N 3 rs1462401348 0.3401 None gnomAD-4.0.0 6.85379E-07
21368 3 D/H 3 None 0.3401 None gnomAD-4.0.0 6.85379E-07
21369 4 P/R 4 rs778476727 0.2259 None gnomAD-2.1.1 4.06E-06
21369 4 P/R 4 rs778476727 0.2259 None gnomAD-4.0.0 1.59662E-06
21369 4 P/S 4 rs1388682620 0.2259 None gnomAD-2.1.1 3.19E-05
21369 4 P/S 4 rs1388682620 0.2259 None gnomAD-3.1.2 6.58E-06
21369 4 P/S 4 rs1388682620 0.2259 None gnomAD-4.0.0 6.58181E-06
21370 5 P/L 5 rs2049075418 0.0998 None gnomAD-3.1.2 6.58E-06
21370 5 P/L 5 rs2049075418 0.0998 None gnomAD-4.0.0 1.86122E-06
21371 6 R/G 6 rs748901968 0.2564 None gnomAD-3.1.2 1.97E-05
21371 6 R/G 6 rs748901968 0.2564 None gnomAD-4.0.0 1.30258E-05
21371 6 R/S 6 rs2049074403 0.2564 None gnomAD-4.0.0 1.59492E-06
21371 6 R/T 6 None 0.2564 None gnomAD-4.0.0 1.59501E-06
21372 7 K/R 7 rs1186477441 0.3865 None gnomAD-2.1.1 3.19E-05
21372 7 K/R 7 rs1186477441 0.3865 None gnomAD-4.0.0 1.36952E-06
21372 7 K/I 7 None 0.3865 None gnomAD-4.0.0 6.84762E-07
21373 8 L/F 9 rs753245626 0.1137 None gnomAD-2.1.1 4.04E-05
21373 8 L/F 9 rs753245626 0.1137 None gnomAD-4.0.0 2.12238E-05
21373 8 L/S 9 rs1435172600 0.1137 None gnomAD-3.1.2 6.58E-06
21373 8 L/S 9 rs1435172600 0.1137 None gnomAD-4.0.0 3.72061E-06
21375 10 V/M 12 rs371670651 0.1417 None gnomAD-2.1.1 2.82E-05
21375 10 V/M 12 rs371670651 0.1417 None gnomAD-3.1.2 7.23E-05
21375 10 V/M 12 rs371670651 0.1417 None gnomAD-4.0.0 2.1083E-05
21375 10 V/L 12 rs371670651 0.1417 None gnomAD-4.0.0 6.84636E-07
21376 11 T/A 13 rs368683686 0.1530 None gnomAD-2.1.1 4.03E-06
21376 11 T/A 13 rs368683686 0.1530 None gnomAD-3.1.2 6.58E-06
21376 11 T/A 13 rs368683686 0.1530 None gnomAD-4.0.0 8.12071E-06
21376 11 T/S 13 rs1437293840 0.1530 None gnomAD-2.1.1 4.03E-06
21376 11 T/S 13 rs1437293840 0.1530 None gnomAD-4.0.0 4.10739E-06
21380 15 K/R 17 rs2049068326 0.5959 None gnomAD-4.0.0 2.05359E-06
21380 15 K/E 17 None 0.5959 None gnomAD-4.0.0 1.20032E-06
21381 16 N/S 18 rs2154181598 0.5381 None gnomAD-3.1.2 6.58E-06
21381 16 N/S 18 rs2154181598 0.5381 None gnomAD-4.0.0 6.57203E-06
21382 17 S/I 19 rs759348008 0.1583 None gnomAD-2.1.1 4.02E-06
21382 17 S/I 19 rs759348008 0.1583 None gnomAD-4.0.0 1.59289E-06
21383 18 A/T 20 rs727503582 0.0885 None gnomAD-2.1.1 4.02E-06
21383 18 A/T 20 rs727503582 0.0885 None gnomAD-3.1.2 6.58E-06
21383 18 A/T 20 rs727503582 0.0885 None gnomAD-4.0.0 2.72794E-05
21384 19 T/I 21 rs2049065358 0.1908 None gnomAD-3.1.2 6.58E-06
21384 19 T/I 21 rs2049065358 0.1908 None gnomAD-4.0.0 6.5767E-06
21386 21 A/V 23 None 0.0930 None gnomAD-4.0.0 1.36897E-06
21387 22 W/C 24 None 0.0872 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.1267 None gnomAD-4.0.0 6.84484E-07
21388 23 L/S 25 None 0.1267 None gnomAD-4.0.0 1.59276E-06
21389 24 P/T 26 rs2049063426 0.3678 None gnomAD-3.1.2 6.58E-06
21389 24 P/T 26 rs2049063426 0.3678 None gnomAD-4.0.0 6.57756E-06
21390 25 P/A 27 None 0.1507 None gnomAD-4.0.0 1.20032E-06
21390 25 P/L 27 rs763262121 0.1507 None gnomAD-2.1.1 1.07E-05
21390 25 P/L 27 rs763262121 0.1507 None gnomAD-3.1.2 1.32E-05
21390 25 P/L 27 rs763262121 0.1507 None gnomAD-4.0.0 1.28225E-05
21391 26 L/R 28 None 0.8078 None gnomAD-4.0.0 1.59276E-06
21392 27 R/P 29 rs777176324 0.6972 None gnomAD-3.1.2 6.58E-06
21392 27 R/P 29 rs777176324 0.6972 None gnomAD-4.0.0 6.57626E-06
21392 27 R/L 29 rs777176324 0.6972 None gnomAD-2.1.1 4.02E-06
21392 27 R/L 29 rs777176324 0.6972 None gnomAD-4.0.0 1.36899E-06
21392 27 R/H 29 None 0.6972 None gnomAD-2.1.1 6.43E-05
21392 27 R/H 29 None 0.6972 None gnomAD-3.1.2 6.58E-05
21392 27 R/H 29 None 0.6972 None gnomAD-4.0.0 5.1457E-05
21392 27 R/G 29 None 0.6972 None gnomAD-4.0.0 6.84489E-07
21392 27 R/C 29 rs72646859 0.6972 None gnomAD-2.1.1 6.1088E-04
21392 27 R/C 29 rs72646859 0.6972 None gnomAD-3.1.2 5.39296E-04
21392 27 R/C 29 rs72646859 0.6972 None gnomAD-4.0.0 8.00317E-04
21393 28 D/H 30 None 0.3590 None gnomAD-4.0.0 1.59277E-06
21394 29 G/R 31 None 0.3137 None gnomAD-4.0.0 1.59279E-06
21395 30 G/A 32 rs769161359 0.6689 None gnomAD-2.1.1 4.02E-06
21395 30 G/A 32 rs769161359 0.6689 None gnomAD-3.1.2 6.58E-06
21395 30 G/A 32 rs769161359 0.6689 None gnomAD-4.0.0 1.23992E-06
21395 30 G/D 32 None 0.6689 None gnomAD-4.0.0 1.36897E-06
21395 30 G/S 32 rs199863338 0.6689 None gnomAD-4.0.0 6.84486E-07
21395 30 G/V 32 rs769161359 0.6689 None gnomAD-4.0.0 4.7914E-06
21396 31 A/G 33 None 0.2478 None gnomAD-2.1.1 4.02E-06
21396 31 A/G 33 None 0.2478 None gnomAD-4.0.0 2.05348E-06
21396 31 A/V 33 rs747305122 0.2478 None gnomAD-2.1.1 4.02E-06
21396 31 A/V 33 rs747305122 0.2478 None gnomAD-4.0.0 6.84492E-07
21398 33 I/S 35 rs727504754 0.1681 None gnomAD-2.1.1 3.22E-05
21398 33 I/S 35 rs727504754 0.1681 None gnomAD-4.0.0 1.75201E-05
21399 34 D/N 36 rs749018114 0.3656 None gnomAD-2.1.1 2.41E-05
21399 34 D/N 36 rs749018114 0.3656 None gnomAD-3.1.2 3.29E-05
21399 34 D/N 36 rs749018114 0.3656 None gnomAD-4.0.0 2.66592E-05
21400 35 G/S 37 rs755708220 0.1014 None gnomAD-2.1.1 4.02E-06
21401 36 Y/C 38 None 0.1132 None gnomAD-4.0.0 1.59274E-06
21401 36 Y/H 38 None 0.1132 None gnomAD-4.0.0 1.59272E-06
21402 37 I/V 39 rs1157697777 0.2237 None gnomAD-2.1.1 4.02E-06
21402 37 I/V 39 rs1157697777 0.2237 None gnomAD-4.0.0 4.77809E-06
21403 38 T/I 40 rs2042996 0.1312 None 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1312 None gnomAD-2.1.1 3.50373E-01
21403 38 T/I 40 rs2042996 0.1312 None gnomAD-3.1.2 3.56988E-01
21403 38 T/I 40 rs2042996 0.1312 None gnomAD-4.0.0 2.75244E-01
21404 39 S/T 41 None 0.1005 None gnomAD-4.0.0 1.59264E-06
21404 39 S/R 41 rs1159259078 0.1005 None gnomAD-2.1.1 4.02E-06
21404 39 S/R 41 rs1159259078 0.1005 None gnomAD-4.0.0 1.59262E-06
21407 42 E/G 44 rs1413732448 0.2697 None gnomAD-3.1.2 6.58E-06
21407 42 E/G 44 rs1413732448 0.2697 None gnomAD-4.0.0 6.09034E-06
21408 43 E/K 50 None 0.3561 None gnomAD-4.0.0 1.59261E-06
21409 44 E/K 51 None 0.7868 None gnomAD-4.0.0 1.20033E-06
21412 47 A/S 62 None 0.4920 None gnomAD-4.0.0 1.20032E-06
21413 48 D/G 63 rs375659466 0.7240 None 1000 genomes 1.99681E-04
21413 48 D/G 63 rs375659466 0.7240 None gnomAD-2.1.1 1.07E-05
21413 48 D/G 63 rs375659466 0.7240 None gnomAD-3.1.2 2.63E-05
21413 48 D/G 63 rs375659466 0.7240 None gnomAD-4.0.0 4.4011E-05
21414 49 R/C 64 rs373478378 0.6071 None gnomAD-2.1.1 4.02E-06
21414 49 R/C 64 rs373478378 0.6071 None gnomAD-3.1.2 6.58E-06
21414 49 R/C 64 rs373478378 0.6071 None gnomAD-4.0.0 1.85986E-06
21414 49 R/H 64 rs727504690 0.6071 None gnomAD-2.1.1 2.41E-05
21414 49 R/H 64 rs727504690 0.6071 None gnomAD-3.1.2 2.63E-05
21414 49 R/H 64 rs727504690 0.6071 None gnomAD-4.0.0 1.11591E-05
21415 50 W/C 65 rs369299712 0.2197 None gnomAD-2.1.1 8.04E-06
21415 50 W/C 65 rs369299712 0.2197 None gnomAD-3.1.2 6.58E-06
21415 50 W/C 65 rs369299712 0.2197 None gnomAD-4.0.0 1.30187E-05
21416 51 T/I 66 None 0.3755 None gnomAD-4.0.0 1.59261E-06
21417 52 E/D 67 rs879230654 0.6980 None gnomAD-4.0.0 1.36892E-06
21417 52 E/Q 67 None 0.6980 None gnomAD-4.0.0 6.84448E-07
21418 53 Y/S 68 rs573165930 0.2790 None 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2790 None gnomAD-2.1.1 5.36E-05
21418 53 Y/S 68 rs573165930 0.2790 None gnomAD-3.1.2 3.95E-05
21418 53 Y/S 68 rs573165930 0.2790 None gnomAD-4.0.0 1.54971E-05
21420 55 V/L 75 None 0.3447 None gnomAD-4.0.0 1.59254E-06
21420 55 V/A 75 rs765213969 0.3447 None gnomAD-2.1.1 4.02E-06
21420 55 V/A 75 rs765213969 0.3447 None gnomAD-3.1.2 6.58E-06
21420 55 V/A 75 rs765213969 0.3447 None gnomAD-4.0.0 6.58007E-06
21422 57 K/N 83 rs758963173 0.7805 None gnomAD-4.0.0 4.10669E-06
21422 57 K/R 83 None 0.7805 None gnomAD-4.0.0 1.20032E-06
21423 58 D/Y 88 rs761820626 0.7136 None gnomAD-2.1.1 4.02E-06
21423 58 D/Y 88 rs761820626 0.7136 None gnomAD-3.1.2 6.58E-06
21423 58 D/Y 88 rs761820626 0.7136 None gnomAD-4.0.0 1.23989E-06
21424 59 L/V 89 None 0.2539 None gnomAD-4.0.0 1.36889E-06
21424 59 L/Q 89 None 0.2539 None gnomAD-4.0.0 1.20032E-06
21426 61 L/F 91 rs1235011285 0.1737 None gnomAD-2.1.1 4.02E-06
21426 61 L/F 91 rs1235011285 0.1737 None gnomAD-3.1.2 6.58E-06
21426 61 L/F 91 rs1235011285 0.1737 None gnomAD-4.0.0 5.12877E-06
21428 63 V/F 93 None 0.0872 None gnomAD-4.0.0 1.59263E-06
21428 63 V/A 93 rs1576014979 0.0872 None gnomAD-3.1.2 6.58E-06
21428 63 V/A 93 rs1576014979 0.0872 None gnomAD-4.0.0 2.56421E-06
21429 64 T/I 94 rs1276697618 0.4580 None gnomAD-2.1.1 3.19E-05
21429 64 T/I 94 rs1276697618 0.4580 None gnomAD-3.1.2 6.58E-06
21429 64 T/I 94 rs1276697618 0.4580 None gnomAD-4.0.0 2.56412E-06
21430 65 G/A 96 rs1186264863 0.5027 None gnomAD-3.1.2 6.58E-06
21430 65 G/A 96 rs1186264863 0.5027 None gnomAD-4.0.0 6.57601E-06
21430 65 G/D 96 None 0.5027 None gnomAD-4.0.0 3.18524E-06
21430 65 G/S 96 rs2049038476 0.5027 None gnomAD-4.0.0 1.59258E-06
21432 67 K/R 98 rs1297397587 0.6437 None gnomAD-2.1.1 4.02E-06
21432 67 K/R 98 rs1297397587 0.6437 None gnomAD-3.1.2 1.97E-05
21432 67 K/R 98 rs1297397587 0.6437 None gnomAD-4.0.0 7.43908E-06
21434 69 G/R 100 rs1397887723 0.3063 None gnomAD-2.1.1 4.02E-06
21434 69 G/R 100 rs1397887723 0.3063 None gnomAD-3.1.2 6.58E-06
21434 69 G/R 100 rs1397887723 0.3063 None gnomAD-4.0.0 2.56431E-06
21434 69 G/E 100 None 0.3063 None gnomAD-4.0.0 1.36892E-06
21435 70 K/Q 102 None 0.3705 None gnomAD-4.0.0 1.59261E-06
21438 73 K/E 105 None 0.2008 None gnomAD-4.0.0 1.59257E-06
21442 77 A/V 109 rs769108408 0.0952 None gnomAD-2.1.1 8.06E-06
21442 77 A/V 109 rs769108408 0.0952 None gnomAD-3.1.2 2.63E-05
21442 77 A/V 109 rs769108408 0.0952 None gnomAD-4.0.0 1.92188E-05
21442 77 A/T 109 rs886042279 0.0952 None gnomAD-2.1.1 4.03E-06
21442 77 A/T 109 rs886042279 0.0952 None gnomAD-4.0.0 3.18522E-06
21444 79 R/I 111 rs775693601 0.2424 None gnomAD-2.1.1 4.03E-06
21444 79 R/I 111 rs775693601 0.2424 None gnomAD-4.0.0 1.59253E-06
21444 79 R/K 111 rs775693601 0.2424 None gnomAD-2.1.1 4.03E-06
21444 79 R/K 111 rs775693601 0.2424 None gnomAD-4.0.0 1.59253E-06
21446 81 A/V 113 None 0.6455 None gnomAD-4.0.0 1.59252E-06
21447 82 V/A 114 rs2049030119 0.6885 None gnomAD-3.1.2 6.58E-06
21447 82 V/A 114 rs2049030119 0.6885 None gnomAD-4.0.0 3.09964E-06
21448 83 G/A 115 None 0.1768 None gnomAD-4.0.0 1.20032E-06
21449 84 V/A 117 rs748888420 0.3473 None gnomAD-2.1.1 1.07E-05
21449 84 V/A 117 rs748888420 0.3473 None gnomAD-3.1.2 1.98E-05
21449 84 V/A 117 rs748888420 0.3473 None gnomAD-4.0.0 6.4118E-06
21449 84 V/I 117 rs2049029716 0.3473 None gnomAD-3.1.2 6.58E-06
21449 84 V/I 117 rs2049029716 0.3473 None gnomAD-4.0.0 2.03005E-06
21450 85 S/T 118 None 0.0899 None gnomAD-4.0.0 1.20032E-06
21450 85 S/R 118 None 0.0899 None gnomAD-4.0.0 3.60097E-06
21451 86 L/F 119 rs1576014111 0.9079 None gnomAD-4.0.0 6.84458E-07
21453 88 R/G 121 rs1014690727 0.3493 None gnomAD-2.1.1 4.03E-06
21453 88 R/G 121 rs1014690727 0.3493 None gnomAD-3.1.2 1.97E-05
21453 88 R/G 121 rs1014690727 0.3493 None gnomAD-4.0.0 8.97411E-06
21453 88 R/K 121 None 0.3493 None gnomAD-4.0.0 1.36894E-06
21453 88 R/T 121 rs765575975 0.3493 None gnomAD-4.0.0 1.36894E-06
21454 89 E/A 122 rs373183196 0.3621 None gnomAD-2.1.1 4.03E-06
21456 91 E/K 124 rs1432709459 1.0417 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.3776 None gnomAD-4.0.0 1.59274E-06
21457 92 G/E 125 rs2049025749 0.3776 None gnomAD-4.0.0 1.20032E-06
21460 95 E/K 129 None 0.2588 None gnomAD-4.0.0 1.59286E-06
21461 96 A/V 130 None 0.0731 None gnomAD-4.0.0 1.59305E-06
21462 97 K/R 131 rs1275082313 0.2942 None gnomAD-2.1.1 4.04E-06
21462 97 K/R 131 rs1275082313 0.2942 None gnomAD-4.0.0 1.36914E-06
21462 97 K/T 131 None 0.2942 None gnomAD-4.0.0 6.8457E-07
21463 98 E/K 132 rs1214364121 0.6101 None gnomAD-2.1.1 4.04E-06