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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
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 0.5343 None gnomAD-4.0.0 3.21062E-06
21367 2 P/T 2 None 0.1039 None gnomAD-4.0.0 6.86244E-07
21367 2 P/L 2 rs754581725 0.1039 None gnomAD-2.1.1 2.87E-05
21367 2 P/L 2 rs754581725 0.1039 None gnomAD-3.1.2 6.58E-06
21367 2 P/L 2 rs754581725 0.1039 None gnomAD-4.0.0 8.70051E-06
21368 3 D/Y 3 rs1462401348 0.2847 None gnomAD-2.1.1 8.14E-06
21368 3 D/Y 3 rs1462401348 0.2847 None gnomAD-4.0.0 1.37076E-06
21368 3 D/N 3 rs1462401348 0.2847 None gnomAD-4.0.0 6.85379E-07
21368 3 D/H 3 None 0.2847 None gnomAD-4.0.0 6.85379E-07
21369 4 P/R 4 rs778476727 0.2337 None gnomAD-2.1.1 4.06E-06
21369 4 P/R 4 rs778476727 0.2337 None gnomAD-4.0.0 1.59662E-06
21369 4 P/S 4 rs1388682620 0.2337 None gnomAD-2.1.1 3.19E-05
21369 4 P/S 4 rs1388682620 0.2337 None gnomAD-3.1.2 6.58E-06
21369 4 P/S 4 rs1388682620 0.2337 None gnomAD-4.0.0 6.58181E-06
21370 5 P/L 5 rs2049075418 0.1073 None gnomAD-3.1.2 6.58E-06
21370 5 P/L 5 rs2049075418 0.1073 None gnomAD-4.0.0 1.86122E-06
21371 6 R/G 6 rs748901968 0.2475 None gnomAD-3.1.2 1.97E-05
21371 6 R/G 6 rs748901968 0.2475 None gnomAD-4.0.0 1.30258E-05
21371 6 R/S 6 rs2049074403 0.2475 None gnomAD-4.0.0 1.59492E-06
21371 6 R/T 6 None 0.2475 None gnomAD-4.0.0 1.59501E-06
21372 7 K/R 7 rs1186477441 0.7381 None gnomAD-2.1.1 3.19E-05
21372 7 K/R 7 rs1186477441 0.7381 None gnomAD-4.0.0 1.36952E-06
21372 7 K/I 7 None 0.7381 None gnomAD-4.0.0 6.84762E-07
21373 8 L/F 9 rs753245626 0.1173 None gnomAD-2.1.1 4.04E-05
21373 8 L/F 9 rs753245626 0.1173 None gnomAD-4.0.0 2.12238E-05
21373 8 L/S 9 rs1435172600 0.1173 None gnomAD-3.1.2 6.58E-06
21373 8 L/S 9 rs1435172600 0.1173 None gnomAD-4.0.0 3.72061E-06
21375 10 V/M 12 rs371670651 0.1640 None gnomAD-2.1.1 2.82E-05
21375 10 V/M 12 rs371670651 0.1640 None gnomAD-3.1.2 7.23E-05
21375 10 V/M 12 rs371670651 0.1640 None gnomAD-4.0.0 2.1083E-05
21375 10 V/L 12 rs371670651 0.1640 None gnomAD-4.0.0 6.84636E-07
21376 11 T/A 13 rs368683686 0.4716 None gnomAD-2.1.1 4.03E-06
21376 11 T/A 13 rs368683686 0.4716 None gnomAD-3.1.2 6.58E-06
21376 11 T/A 13 rs368683686 0.4716 None gnomAD-4.0.0 8.12071E-06
21376 11 T/S 13 rs1437293840 0.4716 None gnomAD-2.1.1 4.03E-06
21376 11 T/S 13 rs1437293840 0.4716 None gnomAD-4.0.0 4.10739E-06
21380 15 K/R 17 rs2049068326 0.5971 None gnomAD-4.0.0 2.05359E-06
21380 15 K/E 17 None 0.5971 None gnomAD-4.0.0 1.20032E-06
21381 16 N/S 18 rs2154181598 0.4707 None gnomAD-3.1.2 6.58E-06
21381 16 N/S 18 rs2154181598 0.4707 None gnomAD-4.0.0 6.57203E-06
21382 17 S/I 19 rs759348008 0.1665 None gnomAD-2.1.1 4.02E-06
21382 17 S/I 19 rs759348008 0.1665 None gnomAD-4.0.0 1.59289E-06
21383 18 A/T 20 rs727503582 0.0886 None gnomAD-2.1.1 4.02E-06
21383 18 A/T 20 rs727503582 0.0886 None gnomAD-3.1.2 6.58E-06
21383 18 A/T 20 rs727503582 0.0886 None gnomAD-4.0.0 2.72794E-05
21384 19 T/I 21 rs2049065358 0.2118 None gnomAD-3.1.2 6.58E-06
21384 19 T/I 21 rs2049065358 0.2118 None gnomAD-4.0.0 6.5767E-06
21386 21 A/V 23 None 0.1996 None gnomAD-4.0.0 1.36897E-06
21387 22 W/C 24 None 0.0990 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.3947 None gnomAD-4.0.0 6.84484E-07
21388 23 L/S 25 None 0.3947 None gnomAD-4.0.0 1.59276E-06
21389 24 P/T 26 rs2049063426 0.3465 None gnomAD-3.1.2 6.58E-06
21389 24 P/T 26 rs2049063426 0.3465 None gnomAD-4.0.0 6.57756E-06
21390 25 P/A 27 None 0.1511 None gnomAD-4.0.0 1.20032E-06
21390 25 P/L 27 rs763262121 0.1511 None gnomAD-2.1.1 1.07E-05
21390 25 P/L 27 rs763262121 0.1511 None gnomAD-3.1.2 1.32E-05
21390 25 P/L 27 rs763262121 0.1511 None gnomAD-4.0.0 1.28225E-05
21391 26 L/R 28 None 0.9150 None gnomAD-4.0.0 1.59276E-06
21392 27 R/P 29 rs777176324 0.5220 None gnomAD-3.1.2 6.58E-06
21392 27 R/P 29 rs777176324 0.5220 None gnomAD-4.0.0 6.57626E-06
21392 27 R/L 29 rs777176324 0.5220 None gnomAD-2.1.1 4.02E-06
21392 27 R/L 29 rs777176324 0.5220 None gnomAD-4.0.0 1.36899E-06
21392 27 R/H 29 None 0.5220 None gnomAD-2.1.1 6.43E-05
21392 27 R/H 29 None 0.5220 None gnomAD-3.1.2 6.58E-05
21392 27 R/H 29 None 0.5220 None gnomAD-4.0.0 5.1457E-05
21392 27 R/G 29 None 0.5220 None gnomAD-4.0.0 6.84489E-07
21392 27 R/C 29 rs72646859 0.5220 None gnomAD-2.1.1 6.1088E-04
21392 27 R/C 29 rs72646859 0.5220 None gnomAD-3.1.2 5.39296E-04
21392 27 R/C 29 rs72646859 0.5220 None gnomAD-4.0.0 8.00317E-04
21393 28 D/H 30 None 0.3185 None gnomAD-4.0.0 1.59277E-06
21394 29 G/R 31 None 0.3100 None gnomAD-4.0.0 1.59279E-06
21395 30 G/A 32 rs769161359 0.6564 None gnomAD-2.1.1 4.02E-06
21395 30 G/A 32 rs769161359 0.6564 None gnomAD-3.1.2 6.58E-06
21395 30 G/A 32 rs769161359 0.6564 None gnomAD-4.0.0 1.23992E-06
21395 30 G/D 32 None 0.6564 None gnomAD-4.0.0 1.36897E-06
21395 30 G/S 32 rs199863338 0.6564 None gnomAD-4.0.0 6.84486E-07
21395 30 G/V 32 rs769161359 0.6564 None gnomAD-4.0.0 4.7914E-06
21396 31 A/G 33 None 0.2578 None gnomAD-2.1.1 4.02E-06
21396 31 A/G 33 None 0.2578 None gnomAD-4.0.0 2.05348E-06
21396 31 A/V 33 rs747305122 0.2578 None gnomAD-2.1.1 4.02E-06
21396 31 A/V 33 rs747305122 0.2578 None gnomAD-4.0.0 6.84492E-07
21398 33 I/S 35 rs727504754 0.1630 None gnomAD-2.1.1 3.22E-05
21398 33 I/S 35 rs727504754 0.1630 None gnomAD-4.0.0 1.75201E-05
21399 34 D/N 36 rs749018114 0.3683 None gnomAD-2.1.1 2.41E-05
21399 34 D/N 36 rs749018114 0.3683 None gnomAD-3.1.2 3.29E-05
21399 34 D/N 36 rs749018114 0.3683 None gnomAD-4.0.0 2.66592E-05
21400 35 G/S 37 rs755708220 0.0990 None gnomAD-2.1.1 4.02E-06
21401 36 Y/C 38 None 0.1102 None gnomAD-4.0.0 1.59274E-06
21401 36 Y/H 38 None 0.1102 None gnomAD-4.0.0 1.59272E-06
21402 37 I/V 39 rs1157697777 0.2388 None gnomAD-2.1.1 4.02E-06
21402 37 I/V 39 rs1157697777 0.2388 None gnomAD-4.0.0 4.77809E-06
21403 38 T/I 40 rs2042996 0.1214 None 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1214 None gnomAD-2.1.1 3.50373E-01
21403 38 T/I 40 rs2042996 0.1214 None gnomAD-3.1.2 3.56988E-01
21403 38 T/I 40 rs2042996 0.1214 None gnomAD-4.0.0 2.75244E-01
21404 39 S/T 41 None 0.1025 None gnomAD-4.0.0 1.59264E-06
21404 39 S/R 41 rs1159259078 0.1025 None gnomAD-2.1.1 4.02E-06
21404 39 S/R 41 rs1159259078 0.1025 None gnomAD-4.0.0 1.59262E-06
21407 42 E/G 44 rs1413732448 0.2804 None gnomAD-3.1.2 6.58E-06
21407 42 E/G 44 rs1413732448 0.2804 None gnomAD-4.0.0 6.09034E-06
21408 43 E/K 50 None 0.3815 None gnomAD-4.0.0 1.59261E-06
21409 44 E/K 51 None 0.7640 None gnomAD-4.0.0 1.20033E-06
21412 47 A/S 62 None 0.5291 None gnomAD-4.0.0 1.20032E-06
21413 48 D/G 63 rs375659466 0.7423 None 1000 genomes 1.99681E-04
21413 48 D/G 63 rs375659466 0.7423 None gnomAD-2.1.1 1.07E-05
21413 48 D/G 63 rs375659466 0.7423 None gnomAD-3.1.2 2.63E-05
21413 48 D/G 63 rs375659466 0.7423 None gnomAD-4.0.0 4.4011E-05
21414 49 R/C 64 rs373478378 0.6295 None gnomAD-2.1.1 4.02E-06
21414 49 R/C 64 rs373478378 0.6295 None gnomAD-3.1.2 6.58E-06
21414 49 R/C 64 rs373478378 0.6295 None gnomAD-4.0.0 1.85986E-06
21414 49 R/H 64 rs727504690 0.6295 None gnomAD-2.1.1 2.41E-05
21414 49 R/H 64 rs727504690 0.6295 None gnomAD-3.1.2 2.63E-05
21414 49 R/H 64 rs727504690 0.6295 None gnomAD-4.0.0 1.11591E-05
21415 50 W/C 65 rs369299712 0.2229 None gnomAD-2.1.1 8.04E-06
21415 50 W/C 65 rs369299712 0.2229 None gnomAD-3.1.2 6.58E-06
21415 50 W/C 65 rs369299712 0.2229 None gnomAD-4.0.0 1.30187E-05
21416 51 T/I 66 None 0.4048 None gnomAD-4.0.0 1.59261E-06
21417 52 E/D 67 rs879230654 0.6922 None gnomAD-4.0.0 1.36892E-06
21417 52 E/Q 67 None 0.6922 None gnomAD-4.0.0 6.84448E-07
21418 53 Y/S 68 rs573165930 0.2732 None 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2732 None gnomAD-2.1.1 5.36E-05
21418 53 Y/S 68 rs573165930 0.2732 None gnomAD-3.1.2 3.95E-05
21418 53 Y/S 68 rs573165930 0.2732 None gnomAD-4.0.0 1.54971E-05
21420 55 V/L 75 None 0.3573 None gnomAD-4.0.0 1.59254E-06
21420 55 V/A 75 rs765213969 0.3573 None gnomAD-2.1.1 4.02E-06
21420 55 V/A 75 rs765213969 0.3573 None gnomAD-3.1.2 6.58E-06
21420 55 V/A 75 rs765213969 0.3573 None gnomAD-4.0.0 6.58007E-06
21422 57 K/N 83 rs758963173 0.7494 None gnomAD-4.0.0 4.10669E-06
21422 57 K/R 83 None 0.7494 None gnomAD-4.0.0 1.20032E-06
21423 58 D/Y 88 rs761820626 0.7147 None gnomAD-2.1.1 4.02E-06
21423 58 D/Y 88 rs761820626 0.7147 None gnomAD-3.1.2 6.58E-06
21423 58 D/Y 88 rs761820626 0.7147 None gnomAD-4.0.0 1.23989E-06
21424 59 L/V 89 None 0.2710 None gnomAD-4.0.0 1.36889E-06
21424 59 L/Q 89 None 0.2710 None gnomAD-4.0.0 1.20032E-06
21426 61 L/F 91 rs1235011285 0.1755 None gnomAD-2.1.1 4.02E-06
21426 61 L/F 91 rs1235011285 0.1755 None gnomAD-3.1.2 6.58E-06
21426 61 L/F 91 rs1235011285 0.1755 None gnomAD-4.0.0 5.12877E-06
21428 63 V/F 93 None 0.0892 None gnomAD-4.0.0 1.59263E-06
21428 63 V/A 93 rs1576014979 0.0892 None gnomAD-3.1.2 6.58E-06
21428 63 V/A 93 rs1576014979 0.0892 None gnomAD-4.0.0 2.56421E-06
21429 64 T/I 94 rs1276697618 0.4780 None gnomAD-2.1.1 3.19E-05
21429 64 T/I 94 rs1276697618 0.4780 None gnomAD-3.1.2 6.58E-06
21429 64 T/I 94 rs1276697618 0.4780 None gnomAD-4.0.0 2.56412E-06
21430 65 G/A 96 rs1186264863 0.5062 None gnomAD-3.1.2 6.58E-06
21430 65 G/A 96 rs1186264863 0.5062 None gnomAD-4.0.0 6.57601E-06
21430 65 G/D 96 None 0.5062 None gnomAD-4.0.0 3.18524E-06
21430 65 G/S 96 rs2049038476 0.5062 None gnomAD-4.0.0 1.59258E-06
21432 67 K/R 98 rs1297397587 0.5870 None gnomAD-2.1.1 4.02E-06
21432 67 K/R 98 rs1297397587 0.5870 None gnomAD-3.1.2 1.97E-05
21432 67 K/R 98 rs1297397587 0.5870 None gnomAD-4.0.0 7.43908E-06
21434 69 G/R 100 rs1397887723 0.3163 None gnomAD-2.1.1 4.02E-06
21434 69 G/R 100 rs1397887723 0.3163 None gnomAD-3.1.2 6.58E-06
21434 69 G/R 100 rs1397887723 0.3163 None gnomAD-4.0.0 2.56431E-06
21434 69 G/E 100 None 0.3163 None gnomAD-4.0.0 1.36892E-06
21435 70 K/Q 102 None 0.3632 None gnomAD-4.0.0 1.59261E-06
21438 73 K/E 105 None 0.2121 None gnomAD-4.0.0 1.59257E-06
21442 77 A/V 109 rs769108408 0.0977 None gnomAD-2.1.1 8.06E-06
21442 77 A/V 109 rs769108408 0.0977 None gnomAD-3.1.2 2.63E-05
21442 77 A/V 109 rs769108408 0.0977 None gnomAD-4.0.0 1.92188E-05
21442 77 A/T 109 rs886042279 0.0977 None gnomAD-2.1.1 4.03E-06
21442 77 A/T 109 rs886042279 0.0977 None gnomAD-4.0.0 3.18522E-06
21444 79 R/I 111 rs775693601 0.2778 None gnomAD-2.1.1 4.03E-06
21444 79 R/I 111 rs775693601 0.2778 None gnomAD-4.0.0 1.59253E-06
21444 79 R/K 111 rs775693601 0.2778 None gnomAD-2.1.1 4.03E-06
21444 79 R/K 111 rs775693601 0.2778 None gnomAD-4.0.0 1.59253E-06
21446 81 A/V 113 None 0.6500 None gnomAD-4.0.0 1.59252E-06
21447 82 V/A 114 rs2049030119 0.6818 None gnomAD-3.1.2 6.58E-06
21447 82 V/A 114 rs2049030119 0.6818 None gnomAD-4.0.0 3.09964E-06
21448 83 G/A 115 None 0.1732 None gnomAD-4.0.0 1.20032E-06
21449 84 V/A 117 rs748888420 0.3532 None gnomAD-2.1.1 1.07E-05
21449 84 V/A 117 rs748888420 0.3532 None gnomAD-3.1.2 1.98E-05
21449 84 V/A 117 rs748888420 0.3532 None gnomAD-4.0.0 6.4118E-06
21449 84 V/I 117 rs2049029716 0.3532 None gnomAD-3.1.2 6.58E-06
21449 84 V/I 117 rs2049029716 0.3532 None gnomAD-4.0.0 2.03005E-06
21450 85 S/T 118 None 0.0929 None gnomAD-4.0.0 1.20032E-06
21450 85 S/R 118 None 0.0929 None gnomAD-4.0.0 3.60097E-06
21451 86 L/F 119 rs1576014111 0.9105 None gnomAD-4.0.0 6.84458E-07
21453 88 R/G 121 rs1014690727 0.3677 None gnomAD-2.1.1 4.03E-06
21453 88 R/G 121 rs1014690727 0.3677 None gnomAD-3.1.2 1.97E-05
21453 88 R/G 121 rs1014690727 0.3677 None gnomAD-4.0.0 8.97411E-06
21453 88 R/K 121 None 0.3677 None gnomAD-4.0.0 1.36894E-06
21453 88 R/T 121 rs765575975 0.3677 None gnomAD-4.0.0 1.36894E-06
21454 89 E/A 122 rs373183196 0.3303 None gnomAD-2.1.1 4.03E-06
21456 91 E/K 124 rs1432709459 1.0380 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.3869 None gnomAD-4.0.0 1.59274E-06
21457 92 G/E 125 rs2049025749 0.3869 None gnomAD-4.0.0 1.20032E-06
21460 95 E/K 129 None 0.2975 None gnomAD-4.0.0 1.59286E-06
21461 96 A/V 130 None 0.0751 None gnomAD-4.0.0 1.59305E-06
21462 97 K/R 131 rs1275082313 0.3049 None gnomAD-2.1.1 4.04E-06
21462 97 K/R 131 rs1275082313 0.3049 None gnomAD-4.0.0 1.36914E-06
21462 97 K/T 131 None 0.3049 None gnomAD-4.0.0 6.8457E-07
21463 98 E/K 132 rs1214364121 0.7998 None gnomAD-2.1.1 4.04E-06