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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
T P G P V S D L K V S D V T K T S C H V S W A P P E N D G G S Q V T H Y I V E K R E A D R K T W S T V T P E V K K T S F H V T N L V P G N E Y Y F R V T A V N E Y G P G V P T D V P K P V L A S D P L S 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
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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 0.4547 None gnomAD-4.0.0 3.21062E-06
21367 2 P/T 2 None 0.0949 None gnomAD-4.0.0 6.86244E-07
21367 2 P/L 2 rs754581725 0.0949 None gnomAD-2.1.1 2.87E-05
21367 2 P/L 2 rs754581725 0.0949 None gnomAD-3.1.2 6.58E-06
21367 2 P/L 2 rs754581725 0.0949 None gnomAD-4.0.0 8.70051E-06
21368 3 D/Y 3 rs1462401348 0.2724 None gnomAD-2.1.1 8.14E-06
21368 3 D/Y 3 rs1462401348 0.2724 None gnomAD-4.0.0 1.37076E-06
21368 3 D/N 3 rs1462401348 0.2724 None gnomAD-4.0.0 6.85379E-07
21368 3 D/H 3 None 0.2724 None gnomAD-4.0.0 6.85379E-07
21369 4 P/R 4 rs778476727 0.2331 None gnomAD-2.1.1 4.06E-06
21369 4 P/R 4 rs778476727 0.2331 None gnomAD-4.0.0 1.59662E-06
21369 4 P/S 4 rs1388682620 0.2331 None gnomAD-2.1.1 3.19E-05
21369 4 P/S 4 rs1388682620 0.2331 None gnomAD-3.1.2 6.58E-06
21369 4 P/S 4 rs1388682620 0.2331 None gnomAD-4.0.0 6.58181E-06
21370 5 P/L 5 rs2049075418 0.0975 None gnomAD-3.1.2 6.58E-06
21370 5 P/L 5 rs2049075418 0.0975 None gnomAD-4.0.0 1.86122E-06
21371 6 R/G 6 rs748901968 0.2957 None gnomAD-3.1.2 1.97E-05
21371 6 R/G 6 rs748901968 0.2957 None gnomAD-4.0.0 1.30258E-05
21371 6 R/S 6 rs2049074403 0.2957 None gnomAD-4.0.0 1.59492E-06
21371 6 R/T 6 None 0.2957 None gnomAD-4.0.0 1.59501E-06
21372 7 K/R 7 rs1186477441 0.7367 None gnomAD-2.1.1 3.19E-05
21372 7 K/R 7 rs1186477441 0.7367 None gnomAD-4.0.0 1.36952E-06
21372 7 K/I 7 None 0.7367 None gnomAD-4.0.0 6.84762E-07
21373 8 L/F 9 rs753245626 0.1157 None gnomAD-2.1.1 4.04E-05
21373 8 L/F 9 rs753245626 0.1157 None gnomAD-4.0.0 2.12238E-05
21373 8 L/S 9 rs1435172600 0.1157 None gnomAD-3.1.2 6.58E-06
21373 8 L/S 9 rs1435172600 0.1157 None gnomAD-4.0.0 3.72061E-06
21375 10 V/M 12 rs371670651 0.1596 None gnomAD-2.1.1 2.82E-05
21375 10 V/M 12 rs371670651 0.1596 None gnomAD-3.1.2 7.23E-05
21375 10 V/M 12 rs371670651 0.1596 None gnomAD-4.0.0 2.1083E-05
21375 10 V/L 12 rs371670651 0.1596 None gnomAD-4.0.0 6.84636E-07
21376 11 T/A 13 rs368683686 0.4127 None gnomAD-2.1.1 4.03E-06
21376 11 T/A 13 rs368683686 0.4127 None gnomAD-3.1.2 6.58E-06
21376 11 T/A 13 rs368683686 0.4127 None gnomAD-4.0.0 8.12071E-06
21376 11 T/S 13 rs1437293840 0.4127 None gnomAD-2.1.1 4.03E-06
21376 11 T/S 13 rs1437293840 0.4127 None gnomAD-4.0.0 4.10739E-06
21380 15 K/R 17 rs2049068326 0.6169 None gnomAD-4.0.0 2.05359E-06
21380 15 K/E 17 None 0.6169 None gnomAD-4.0.0 1.20032E-06
21381 16 N/S 18 rs2154181598 0.4708 None gnomAD-3.1.2 6.58E-06
21381 16 N/S 18 rs2154181598 0.4708 None gnomAD-4.0.0 6.57203E-06
21382 17 S/I 19 rs759348008 0.1623 None gnomAD-2.1.1 4.02E-06
21382 17 S/I 19 rs759348008 0.1623 None gnomAD-4.0.0 1.59289E-06
21383 18 A/T 20 rs727503582 0.0858 None gnomAD-2.1.1 4.02E-06
21383 18 A/T 20 rs727503582 0.0858 None gnomAD-3.1.2 6.58E-06
21383 18 A/T 20 rs727503582 0.0858 None gnomAD-4.0.0 2.72794E-05
21384 19 T/I 21 rs2049065358 0.1916 None gnomAD-3.1.2 6.58E-06
21384 19 T/I 21 rs2049065358 0.1916 None gnomAD-4.0.0 6.5767E-06
21386 21 A/V 23 None 0.2060 None gnomAD-4.0.0 1.36897E-06
21387 22 W/C 24 None 0.1022 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.4287 None gnomAD-4.0.0 6.84484E-07
21388 23 L/S 25 None 0.4287 None gnomAD-4.0.0 1.59276E-06
21389 24 P/T 26 rs2049063426 0.3569 None gnomAD-3.1.2 6.58E-06
21389 24 P/T 26 rs2049063426 0.3569 None gnomAD-4.0.0 6.57756E-06
21390 25 P/A 27 None 0.1488 None gnomAD-4.0.0 1.20032E-06
21390 25 P/L 27 rs763262121 0.1488 None gnomAD-2.1.1 1.07E-05
21390 25 P/L 27 rs763262121 0.1488 None gnomAD-3.1.2 1.32E-05
21390 25 P/L 27 rs763262121 0.1488 None gnomAD-4.0.0 1.28225E-05
21391 26 L/R 28 None 0.8450 None gnomAD-4.0.0 1.59276E-06
21392 27 R/P 29 rs777176324 0.3025 None gnomAD-3.1.2 6.58E-06
21392 27 R/P 29 rs777176324 0.3025 None gnomAD-4.0.0 6.57626E-06
21392 27 R/L 29 rs777176324 0.3025 None gnomAD-2.1.1 4.02E-06
21392 27 R/L 29 rs777176324 0.3025 None gnomAD-4.0.0 1.36899E-06
21392 27 R/H 29 None 0.3025 None gnomAD-2.1.1 6.43E-05
21392 27 R/H 29 None 0.3025 None gnomAD-3.1.2 6.58E-05
21392 27 R/H 29 None 0.3025 None gnomAD-4.0.0 5.1457E-05
21392 27 R/G 29 None 0.3025 None gnomAD-4.0.0 6.84489E-07
21392 27 R/C 29 rs72646859 0.3025 None gnomAD-2.1.1 6.1088E-04
21392 27 R/C 29 rs72646859 0.3025 None gnomAD-3.1.2 5.39296E-04
21392 27 R/C 29 rs72646859 0.3025 None gnomAD-4.0.0 8.00317E-04
21393 28 D/H 30 None 0.3353 None gnomAD-4.0.0 1.59277E-06
21394 29 G/R 31 None 0.1032 None gnomAD-4.0.0 1.59279E-06
21395 30 G/A 32 rs769161359 0.4707 None gnomAD-2.1.1 4.02E-06
21395 30 G/A 32 rs769161359 0.4707 None gnomAD-3.1.2 6.58E-06
21395 30 G/A 32 rs769161359 0.4707 None gnomAD-4.0.0 1.23992E-06
21395 30 G/D 32 None 0.4707 None gnomAD-4.0.0 1.36897E-06
21395 30 G/S 32 rs199863338 0.4707 None gnomAD-4.0.0 6.84486E-07
21395 30 G/V 32 rs769161359 0.4707 None gnomAD-4.0.0 4.7914E-06
21396 31 A/G 33 None 0.1986 None gnomAD-2.1.1 4.02E-06
21396 31 A/G 33 None 0.1986 None gnomAD-4.0.0 2.05348E-06
21396 31 A/V 33 rs747305122 0.1986 None gnomAD-2.1.1 4.02E-06
21396 31 A/V 33 rs747305122 0.1986 None gnomAD-4.0.0 6.84492E-07
21398 33 I/S 35 rs727504754 0.1812 None gnomAD-2.1.1 3.22E-05
21398 33 I/S 35 rs727504754 0.1812 None gnomAD-4.0.0 1.75201E-05
21399 34 D/N 36 rs749018114 0.3552 None gnomAD-2.1.1 2.41E-05
21399 34 D/N 36 rs749018114 0.3552 None gnomAD-3.1.2 3.29E-05
21399 34 D/N 36 rs749018114 0.3552 None gnomAD-4.0.0 2.66592E-05
21400 35 G/S 37 rs755708220 0.1015 None gnomAD-2.1.1 4.02E-06
21401 36 Y/C 38 None 0.1111 None gnomAD-4.0.0 1.59274E-06
21401 36 Y/H 38 None 0.1111 None gnomAD-4.0.0 1.59272E-06
21402 37 I/V 39 rs1157697777 0.2308 None gnomAD-2.1.1 4.02E-06
21402 37 I/V 39 rs1157697777 0.2308 None gnomAD-4.0.0 4.77809E-06
21403 38 T/I 40 rs2042996 0.1275 None 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1275 None gnomAD-2.1.1 3.50373E-01
21403 38 T/I 40 rs2042996 0.1275 None gnomAD-3.1.2 3.56988E-01
21403 38 T/I 40 rs2042996 0.1275 None gnomAD-4.0.0 2.75244E-01
21404 39 S/T 41 None 0.0947 None gnomAD-4.0.0 1.59264E-06
21404 39 S/R 41 rs1159259078 0.0947 None gnomAD-2.1.1 4.02E-06
21404 39 S/R 41 rs1159259078 0.0947 None gnomAD-4.0.0 1.59262E-06
21407 42 E/G 44 rs1413732448 0.2413 None gnomAD-3.1.2 6.58E-06
21407 42 E/G 44 rs1413732448 0.2413 None gnomAD-4.0.0 6.09034E-06
21408 43 E/K 50 None 0.4372 None gnomAD-4.0.0 1.59261E-06
21409 44 E/K 51 None 0.7499 None gnomAD-4.0.0 1.20033E-06
21412 47 A/S 62 None 0.4986 None gnomAD-4.0.0 1.20032E-06
21413 48 D/G 63 rs375659466 0.7421 None 1000 genomes 1.99681E-04
21413 48 D/G 63 rs375659466 0.7421 None gnomAD-2.1.1 1.07E-05
21413 48 D/G 63 rs375659466 0.7421 None gnomAD-3.1.2 2.63E-05
21413 48 D/G 63 rs375659466 0.7421 None gnomAD-4.0.0 4.4011E-05
21414 49 R/C 64 rs373478378 0.6139 None gnomAD-2.1.1 4.02E-06
21414 49 R/C 64 rs373478378 0.6139 None gnomAD-3.1.2 6.58E-06
21414 49 R/C 64 rs373478378 0.6139 None gnomAD-4.0.0 1.85986E-06
21414 49 R/H 64 rs727504690 0.6139 None gnomAD-2.1.1 2.41E-05
21414 49 R/H 64 rs727504690 0.6139 None gnomAD-3.1.2 2.63E-05
21414 49 R/H 64 rs727504690 0.6139 None gnomAD-4.0.0 1.11591E-05
21415 50 W/C 65 rs369299712 0.2088 None gnomAD-2.1.1 8.04E-06
21415 50 W/C 65 rs369299712 0.2088 None gnomAD-3.1.2 6.58E-06
21415 50 W/C 65 rs369299712 0.2088 None gnomAD-4.0.0 1.30187E-05
21416 51 T/I 66 None 0.3668 None gnomAD-4.0.0 1.59261E-06
21417 52 E/D 67 rs879230654 0.6623 None gnomAD-4.0.0 1.36892E-06
21417 52 E/Q 67 None 0.6623 None gnomAD-4.0.0 6.84448E-07
21418 53 Y/S 68 rs573165930 0.2678 None 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2678 None gnomAD-2.1.1 5.36E-05
21418 53 Y/S 68 rs573165930 0.2678 None gnomAD-3.1.2 3.95E-05
21418 53 Y/S 68 rs573165930 0.2678 None gnomAD-4.0.0 1.54971E-05
21420 55 V/L 75 None 0.3506 None gnomAD-4.0.0 1.59254E-06
21420 55 V/A 75 rs765213969 0.3506 None gnomAD-2.1.1 4.02E-06
21420 55 V/A 75 rs765213969 0.3506 None gnomAD-3.1.2 6.58E-06
21420 55 V/A 75 rs765213969 0.3506 None gnomAD-4.0.0 6.58007E-06
21422 57 K/N 83 rs758963173 0.7798 None gnomAD-4.0.0 4.10669E-06
21422 57 K/R 83 None 0.7798 None gnomAD-4.0.0 1.20032E-06
21423 58 D/Y 88 rs761820626 0.7130 None gnomAD-2.1.1 4.02E-06
21423 58 D/Y 88 rs761820626 0.7130 None gnomAD-3.1.2 6.58E-06
21423 58 D/Y 88 rs761820626 0.7130 None gnomAD-4.0.0 1.23989E-06
21424 59 L/V 89 None 0.2640 None gnomAD-4.0.0 1.36889E-06
21424 59 L/Q 89 None 0.2640 None gnomAD-4.0.0 1.20032E-06
21426 61 L/F 91 rs1235011285 0.1675 None gnomAD-2.1.1 4.02E-06
21426 61 L/F 91 rs1235011285 0.1675 None gnomAD-3.1.2 6.58E-06
21426 61 L/F 91 rs1235011285 0.1675 None gnomAD-4.0.0 5.12877E-06
21428 63 V/F 93 None 0.0822 None gnomAD-4.0.0 1.59263E-06
21428 63 V/A 93 rs1576014979 0.0822 None gnomAD-3.1.2 6.58E-06
21428 63 V/A 93 rs1576014979 0.0822 None gnomAD-4.0.0 2.56421E-06
21429 64 T/I 94 rs1276697618 0.4659 None gnomAD-2.1.1 3.19E-05
21429 64 T/I 94 rs1276697618 0.4659 None gnomAD-3.1.2 6.58E-06
21429 64 T/I 94 rs1276697618 0.4659 None gnomAD-4.0.0 2.56412E-06
21430 65 G/A 96 rs1186264863 0.4915 None gnomAD-3.1.2 6.58E-06
21430 65 G/A 96 rs1186264863 0.4915 None gnomAD-4.0.0 6.57601E-06
21430 65 G/D 96 None 0.4915 None gnomAD-4.0.0 3.18524E-06
21430 65 G/S 96 rs2049038476 0.4915 None gnomAD-4.0.0 1.59258E-06
21432 67 K/R 98 rs1297397587 0.6401 None gnomAD-2.1.1 4.02E-06
21432 67 K/R 98 rs1297397587 0.6401 None gnomAD-3.1.2 1.97E-05
21432 67 K/R 98 rs1297397587 0.6401 None gnomAD-4.0.0 7.43908E-06
21434 69 G/R 100 rs1397887723 0.3100 None gnomAD-2.1.1 4.02E-06
21434 69 G/R 100 rs1397887723 0.3100 None gnomAD-3.1.2 6.58E-06
21434 69 G/R 100 rs1397887723 0.3100 None gnomAD-4.0.0 2.56431E-06
21434 69 G/E 100 None 0.3100 None gnomAD-4.0.0 1.36892E-06
21435 70 K/Q 102 None 0.3475 None gnomAD-4.0.0 1.59261E-06
21438 73 K/E 105 None 0.2930 None gnomAD-4.0.0 1.59257E-06
21442 77 A/V 109 rs769108408 0.0958 None gnomAD-2.1.1 8.06E-06
21442 77 A/V 109 rs769108408 0.0958 None gnomAD-3.1.2 2.63E-05
21442 77 A/V 109 rs769108408 0.0958 None gnomAD-4.0.0 1.92188E-05
21442 77 A/T 109 rs886042279 0.0958 None gnomAD-2.1.1 4.03E-06
21442 77 A/T 109 rs886042279 0.0958 None gnomAD-4.0.0 3.18522E-06
21444 79 R/I 111 rs775693601 0.2678 None gnomAD-2.1.1 4.03E-06
21444 79 R/I 111 rs775693601 0.2678 None gnomAD-4.0.0 1.59253E-06
21444 79 R/K 111 rs775693601 0.2678 None gnomAD-2.1.1 4.03E-06
21444 79 R/K 111 rs775693601 0.2678 None gnomAD-4.0.0 1.59253E-06
21446 81 A/V 113 None 0.6199 None gnomAD-4.0.0 1.59252E-06
21447 82 V/A 114 rs2049030119 0.3729 None gnomAD-3.1.2 6.58E-06
21447 82 V/A 114 rs2049030119 0.3729 None gnomAD-4.0.0 3.09964E-06
21448 83 G/A 115 None 0.1700 None gnomAD-4.0.0 1.20032E-06
21449 84 V/A 117 rs748888420 0.3335 None gnomAD-2.1.1 1.07E-05
21449 84 V/A 117 rs748888420 0.3335 None gnomAD-3.1.2 1.98E-05
21449 84 V/A 117 rs748888420 0.3335 None gnomAD-4.0.0 6.4118E-06
21449 84 V/I 117 rs2049029716 0.3335 None gnomAD-3.1.2 6.58E-06
21449 84 V/I 117 rs2049029716 0.3335 None gnomAD-4.0.0 2.03005E-06
21450 85 S/T 118 None 0.0902 None gnomAD-4.0.0 1.20032E-06
21450 85 S/R 118 None 0.0902 None gnomAD-4.0.0 3.60097E-06
21451 86 L/F 119 rs1576014111 0.9135 None gnomAD-4.0.0 6.84458E-07
21453 88 R/G 121 rs1014690727 0.3589 None gnomAD-2.1.1 4.03E-06
21453 88 R/G 121 rs1014690727 0.3589 None gnomAD-3.1.2 1.97E-05
21453 88 R/G 121 rs1014690727 0.3589 None gnomAD-4.0.0 8.97411E-06
21453 88 R/K 121 None 0.3589 None gnomAD-4.0.0 1.36894E-06
21453 88 R/T 121 rs765575975 0.3589 None gnomAD-4.0.0 1.36894E-06
21454 89 E/A 122 rs373183196 0.3645 None gnomAD-2.1.1 4.03E-06
21456 91 E/K 124 rs1432709459 1.0646 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.3779 None gnomAD-4.0.0 1.59274E-06
21457 92 G/E 125 rs2049025749 0.3779 None gnomAD-4.0.0 1.20032E-06
21460 95 E/K 129 None 0.2714 None gnomAD-4.0.0 1.59286E-06
21461 96 A/V 130 None 0.0717 None gnomAD-4.0.0 1.59305E-06
21462 97 K/R 131 rs1275082313 0.2981 None gnomAD-2.1.1 4.04E-06
21462 97 K/R 131 rs1275082313 0.2981 None gnomAD-4.0.0 1.36914E-06
21462 97 K/T 131 None 0.2981 None gnomAD-4.0.0 6.8457E-07
21463 98 E/K 132 rs1214364121 0.8648 None gnomAD-2.1.1 4.04E-06