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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 0.4780 None gnomAD-4.0.0 3.21062E-06
21367 2 P/T 2 None 0.1024 None gnomAD-4.0.0 6.86244E-07
21367 2 P/L 2 rs754581725 0.1024 None gnomAD-2.1.1 2.87E-05
21367 2 P/L 2 rs754581725 0.1024 None gnomAD-3.1.2 6.58E-06
21367 2 P/L 2 rs754581725 0.1024 None gnomAD-4.0.0 8.70051E-06
21368 3 D/Y 3 rs1462401348 0.2990 None gnomAD-2.1.1 8.14E-06
21368 3 D/Y 3 rs1462401348 0.2990 None gnomAD-4.0.0 1.37076E-06
21368 3 D/N 3 rs1462401348 0.2990 None gnomAD-4.0.0 6.85379E-07
21368 3 D/H 3 None 0.2990 None gnomAD-4.0.0 6.85379E-07
21369 4 P/R 4 rs778476727 0.2341 None gnomAD-2.1.1 4.06E-06
21369 4 P/R 4 rs778476727 0.2341 None gnomAD-4.0.0 1.59662E-06
21369 4 P/S 4 rs1388682620 0.2341 None gnomAD-2.1.1 3.19E-05
21369 4 P/S 4 rs1388682620 0.2341 None gnomAD-3.1.2 6.58E-06
21369 4 P/S 4 rs1388682620 0.2341 None gnomAD-4.0.0 6.58181E-06
21370 5 P/L 5 rs2049075418 0.1077 None gnomAD-3.1.2 6.58E-06
21370 5 P/L 5 rs2049075418 0.1077 None gnomAD-4.0.0 1.86122E-06
21371 6 R/G 6 rs748901968 0.2995 None gnomAD-3.1.2 1.97E-05
21371 6 R/G 6 rs748901968 0.2995 None gnomAD-4.0.0 1.30258E-05
21371 6 R/S 6 rs2049074403 0.2995 None gnomAD-4.0.0 1.59492E-06
21371 6 R/T 6 None 0.2995 None gnomAD-4.0.0 1.59501E-06
21372 7 K/R 7 rs1186477441 0.7378 None gnomAD-2.1.1 3.19E-05
21372 7 K/R 7 rs1186477441 0.7378 None gnomAD-4.0.0 1.36952E-06
21372 7 K/I 7 None 0.7378 None gnomAD-4.0.0 6.84762E-07
21373 8 L/F 9 rs753245626 0.1153 None gnomAD-2.1.1 4.04E-05
21373 8 L/F 9 rs753245626 0.1153 None gnomAD-4.0.0 2.12238E-05
21373 8 L/S 9 rs1435172600 0.1153 None gnomAD-3.1.2 6.58E-06
21373 8 L/S 9 rs1435172600 0.1153 None gnomAD-4.0.0 3.72061E-06
21375 10 V/M 12 rs371670651 0.1610 None gnomAD-2.1.1 2.82E-05
21375 10 V/M 12 rs371670651 0.1610 None gnomAD-3.1.2 7.23E-05
21375 10 V/M 12 rs371670651 0.1610 None gnomAD-4.0.0 2.1083E-05
21375 10 V/L 12 rs371670651 0.1610 None gnomAD-4.0.0 6.84636E-07
21376 11 T/A 13 rs368683686 0.4242 None gnomAD-2.1.1 4.03E-06
21376 11 T/A 13 rs368683686 0.4242 None gnomAD-3.1.2 6.58E-06
21376 11 T/A 13 rs368683686 0.4242 None gnomAD-4.0.0 8.12071E-06
21376 11 T/S 13 rs1437293840 0.4242 None gnomAD-2.1.1 4.03E-06
21376 11 T/S 13 rs1437293840 0.4242 None gnomAD-4.0.0 4.10739E-06
21380 15 K/R 17 rs2049068326 0.6048 None gnomAD-4.0.0 2.05359E-06
21380 15 K/E 17 None 0.6048 None gnomAD-4.0.0 1.20032E-06
21381 16 N/S 18 rs2154181598 0.4676 None gnomAD-3.1.2 6.58E-06
21381 16 N/S 18 rs2154181598 0.4676 None gnomAD-4.0.0 6.57203E-06
21382 17 S/I 19 rs759348008 0.1522 None gnomAD-2.1.1 4.02E-06
21382 17 S/I 19 rs759348008 0.1522 None gnomAD-4.0.0 1.59289E-06
21383 18 A/T 20 rs727503582 0.0826 None gnomAD-2.1.1 4.02E-06
21383 18 A/T 20 rs727503582 0.0826 None gnomAD-3.1.2 6.58E-06
21383 18 A/T 20 rs727503582 0.0826 None gnomAD-4.0.0 2.72794E-05
21384 19 T/I 21 rs2049065358 0.1878 None gnomAD-3.1.2 6.58E-06
21384 19 T/I 21 rs2049065358 0.1878 None gnomAD-4.0.0 6.5767E-06
21386 21 A/V 23 None 0.1976 None gnomAD-4.0.0 1.36897E-06
21387 22 W/C 24 None 0.0984 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.4292 None gnomAD-4.0.0 6.84484E-07
21388 23 L/S 25 None 0.4292 None gnomAD-4.0.0 1.59276E-06
21389 24 P/T 26 rs2049063426 0.3659 None gnomAD-3.1.2 6.58E-06
21389 24 P/T 26 rs2049063426 0.3659 None gnomAD-4.0.0 6.57756E-06
21390 25 P/A 27 None 0.1535 None gnomAD-4.0.0 1.20032E-06
21390 25 P/L 27 rs763262121 0.1535 None gnomAD-2.1.1 1.07E-05
21390 25 P/L 27 rs763262121 0.1535 None gnomAD-3.1.2 1.32E-05
21390 25 P/L 27 rs763262121 0.1535 None gnomAD-4.0.0 1.28225E-05
21391 26 L/R 28 None 0.8624 None gnomAD-4.0.0 1.59276E-06
21392 27 R/P 29 rs777176324 0.5248 None gnomAD-3.1.2 6.58E-06
21392 27 R/P 29 rs777176324 0.5248 None gnomAD-4.0.0 6.57626E-06
21392 27 R/L 29 rs777176324 0.5248 None gnomAD-2.1.1 4.02E-06
21392 27 R/L 29 rs777176324 0.5248 None gnomAD-4.0.0 1.36899E-06
21392 27 R/H 29 None 0.5248 None gnomAD-2.1.1 6.43E-05
21392 27 R/H 29 None 0.5248 None gnomAD-3.1.2 6.58E-05
21392 27 R/H 29 None 0.5248 None gnomAD-4.0.0 5.1457E-05
21392 27 R/G 29 None 0.5248 None gnomAD-4.0.0 6.84489E-07
21392 27 R/C 29 rs72646859 0.5248 None gnomAD-2.1.1 6.1088E-04
21392 27 R/C 29 rs72646859 0.5248 None gnomAD-3.1.2 5.39296E-04
21392 27 R/C 29 rs72646859 0.5248 None gnomAD-4.0.0 8.00317E-04
21393 28 D/H 30 None 0.3344 None gnomAD-4.0.0 1.59277E-06
21394 29 G/R 31 None 0.1082 None gnomAD-4.0.0 1.59279E-06
21395 30 G/A 32 rs769161359 0.3980 None gnomAD-2.1.1 4.02E-06
21395 30 G/A 32 rs769161359 0.3980 None gnomAD-3.1.2 6.58E-06
21395 30 G/A 32 rs769161359 0.3980 None gnomAD-4.0.0 1.23992E-06
21395 30 G/D 32 None 0.3980 None gnomAD-4.0.0 1.36897E-06
21395 30 G/S 32 rs199863338 0.3980 None gnomAD-4.0.0 6.84486E-07
21395 30 G/V 32 rs769161359 0.3980 None gnomAD-4.0.0 4.7914E-06
21396 31 A/G 33 None 0.1749 None gnomAD-2.1.1 4.02E-06
21396 31 A/G 33 None 0.1749 None gnomAD-4.0.0 2.05348E-06
21396 31 A/V 33 rs747305122 0.1749 None gnomAD-2.1.1 4.02E-06
21396 31 A/V 33 rs747305122 0.1749 None gnomAD-4.0.0 6.84492E-07
21398 33 I/S 35 rs727504754 0.1704 None gnomAD-2.1.1 3.22E-05
21398 33 I/S 35 rs727504754 0.1704 None gnomAD-4.0.0 1.75201E-05
21399 34 D/N 36 rs749018114 0.4843 None gnomAD-2.1.1 2.41E-05
21399 34 D/N 36 rs749018114 0.4843 None gnomAD-3.1.2 3.29E-05
21399 34 D/N 36 rs749018114 0.4843 None gnomAD-4.0.0 2.66592E-05
21400 35 G/S 37 rs755708220 0.1248 None gnomAD-2.1.1 4.02E-06
21401 36 Y/C 38 None 0.1117 None gnomAD-4.0.0 1.59274E-06
21401 36 Y/H 38 None 0.1117 None gnomAD-4.0.0 1.59272E-06
21402 37 I/V 39 rs1157697777 0.2235 None gnomAD-2.1.1 4.02E-06
21402 37 I/V 39 rs1157697777 0.2235 None gnomAD-4.0.0 4.77809E-06
21403 38 T/I 40 rs2042996 0.1161 None 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1161 None gnomAD-2.1.1 3.50373E-01
21403 38 T/I 40 rs2042996 0.1161 None gnomAD-3.1.2 3.56988E-01
21403 38 T/I 40 rs2042996 0.1161 None gnomAD-4.0.0 2.75244E-01
21404 39 S/T 41 None 0.0964 None gnomAD-4.0.0 1.59264E-06
21404 39 S/R 41 rs1159259078 0.0964 None gnomAD-2.1.1 4.02E-06
21404 39 S/R 41 rs1159259078 0.0964 None gnomAD-4.0.0 1.59262E-06
21407 42 E/G 44 rs1413732448 0.2710 None gnomAD-3.1.2 6.58E-06
21407 42 E/G 44 rs1413732448 0.2710 None gnomAD-4.0.0 6.09034E-06
21408 43 E/K 50 None 0.3457 None gnomAD-4.0.0 1.59261E-06
21409 44 E/K 51 None 0.7568 None gnomAD-4.0.0 1.20033E-06
21412 47 A/S 62 None 0.5032 None gnomAD-4.0.0 1.20032E-06
21413 48 D/G 63 rs375659466 0.7452 None 1000 genomes 1.99681E-04
21413 48 D/G 63 rs375659466 0.7452 None gnomAD-2.1.1 1.07E-05
21413 48 D/G 63 rs375659466 0.7452 None gnomAD-3.1.2 2.63E-05
21413 48 D/G 63 rs375659466 0.7452 None gnomAD-4.0.0 4.4011E-05
21414 49 R/C 64 rs373478378 0.5983 None gnomAD-2.1.1 4.02E-06
21414 49 R/C 64 rs373478378 0.5983 None gnomAD-3.1.2 6.58E-06
21414 49 R/C 64 rs373478378 0.5983 None gnomAD-4.0.0 1.85986E-06
21414 49 R/H 64 rs727504690 0.5983 None gnomAD-2.1.1 2.41E-05
21414 49 R/H 64 rs727504690 0.5983 None gnomAD-3.1.2 2.63E-05
21414 49 R/H 64 rs727504690 0.5983 None gnomAD-4.0.0 1.11591E-05
21415 50 W/C 65 rs369299712 0.2235 None gnomAD-2.1.1 8.04E-06
21415 50 W/C 65 rs369299712 0.2235 None gnomAD-3.1.2 6.58E-06
21415 50 W/C 65 rs369299712 0.2235 None gnomAD-4.0.0 1.30187E-05
21416 51 T/I 66 None 0.3792 None gnomAD-4.0.0 1.59261E-06
21417 52 E/D 67 rs879230654 0.6917 None gnomAD-4.0.0 1.36892E-06
21417 52 E/Q 67 None 0.6917 None gnomAD-4.0.0 6.84448E-07
21418 53 Y/S 68 rs573165930 0.2601 None 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2601 None gnomAD-2.1.1 5.36E-05
21418 53 Y/S 68 rs573165930 0.2601 None gnomAD-3.1.2 3.95E-05
21418 53 Y/S 68 rs573165930 0.2601 None gnomAD-4.0.0 1.54971E-05
21420 55 V/L 75 None 0.4194 None gnomAD-4.0.0 1.59254E-06
21420 55 V/A 75 rs765213969 0.4194 None gnomAD-2.1.1 4.02E-06
21420 55 V/A 75 rs765213969 0.4194 None gnomAD-3.1.2 6.58E-06
21420 55 V/A 75 rs765213969 0.4194 None gnomAD-4.0.0 6.58007E-06
21422 57 K/N 83 rs758963173 0.7732 None gnomAD-4.0.0 4.10669E-06
21422 57 K/R 83 None 0.7732 None gnomAD-4.0.0 1.20032E-06
21423 58 D/Y 88 rs761820626 0.7023 None gnomAD-2.1.1 4.02E-06
21423 58 D/Y 88 rs761820626 0.7023 None gnomAD-3.1.2 6.58E-06
21423 58 D/Y 88 rs761820626 0.7023 None gnomAD-4.0.0 1.23989E-06
21424 59 L/V 89 None 0.2809 None gnomAD-4.0.0 1.36889E-06
21424 59 L/Q 89 None 0.2809 None gnomAD-4.0.0 1.20032E-06
21426 61 L/F 91 rs1235011285 0.1629 None gnomAD-2.1.1 4.02E-06
21426 61 L/F 91 rs1235011285 0.1629 None gnomAD-3.1.2 6.58E-06
21426 61 L/F 91 rs1235011285 0.1629 None gnomAD-4.0.0 5.12877E-06
21428 63 V/F 93 None 0.0800 None gnomAD-4.0.0 1.59263E-06
21428 63 V/A 93 rs1576014979 0.0800 None gnomAD-3.1.2 6.58E-06
21428 63 V/A 93 rs1576014979 0.0800 None gnomAD-4.0.0 2.56421E-06
21429 64 T/I 94 rs1276697618 0.4386 None gnomAD-2.1.1 3.19E-05
21429 64 T/I 94 rs1276697618 0.4386 None gnomAD-3.1.2 6.58E-06
21429 64 T/I 94 rs1276697618 0.4386 None gnomAD-4.0.0 2.56412E-06
21430 65 G/A 96 rs1186264863 0.4975 None gnomAD-3.1.2 6.58E-06
21430 65 G/A 96 rs1186264863 0.4975 None gnomAD-4.0.0 6.57601E-06
21430 65 G/D 96 None 0.4975 None gnomAD-4.0.0 3.18524E-06
21430 65 G/S 96 rs2049038476 0.4975 None gnomAD-4.0.0 1.59258E-06
21432 67 K/R 98 rs1297397587 0.5679 None gnomAD-2.1.1 4.02E-06
21432 67 K/R 98 rs1297397587 0.5679 None gnomAD-3.1.2 1.97E-05
21432 67 K/R 98 rs1297397587 0.5679 None gnomAD-4.0.0 7.43908E-06
21434 69 G/R 100 rs1397887723 0.3113 None gnomAD-2.1.1 4.02E-06
21434 69 G/R 100 rs1397887723 0.3113 None gnomAD-3.1.2 6.58E-06
21434 69 G/R 100 rs1397887723 0.3113 None gnomAD-4.0.0 2.56431E-06
21434 69 G/E 100 None 0.3113 None gnomAD-4.0.0 1.36892E-06
21435 70 K/Q 102 None 0.3626 None gnomAD-4.0.0 1.59261E-06
21438 73 K/E 105 None 0.2090 None gnomAD-4.0.0 1.59257E-06
21442 77 A/V 109 rs769108408 0.1016 None gnomAD-2.1.1 8.06E-06
21442 77 A/V 109 rs769108408 0.1016 None gnomAD-3.1.2 2.63E-05
21442 77 A/V 109 rs769108408 0.1016 None gnomAD-4.0.0 1.92188E-05
21442 77 A/T 109 rs886042279 0.1016 None gnomAD-2.1.1 4.03E-06
21442 77 A/T 109 rs886042279 0.1016 None gnomAD-4.0.0 3.18522E-06
21444 79 R/I 111 rs775693601 0.5464 None gnomAD-2.1.1 4.03E-06
21444 79 R/I 111 rs775693601 0.5464 None gnomAD-4.0.0 1.59253E-06
21444 79 R/K 111 rs775693601 0.5464 None gnomAD-2.1.1 4.03E-06
21444 79 R/K 111 rs775693601 0.5464 None gnomAD-4.0.0 1.59253E-06
21446 81 A/V 113 None 0.5931 None gnomAD-4.0.0 1.59252E-06
21447 82 V/A 114 rs2049030119 0.4084 None gnomAD-3.1.2 6.58E-06
21447 82 V/A 114 rs2049030119 0.4084 None gnomAD-4.0.0 3.09964E-06
21448 83 G/A 115 None 0.1836 None gnomAD-4.0.0 1.20032E-06
21449 84 V/A 117 rs748888420 0.3499 None gnomAD-2.1.1 1.07E-05
21449 84 V/A 117 rs748888420 0.3499 None gnomAD-3.1.2 1.98E-05
21449 84 V/A 117 rs748888420 0.3499 None gnomAD-4.0.0 6.4118E-06
21449 84 V/I 117 rs2049029716 0.3499 None gnomAD-3.1.2 6.58E-06
21449 84 V/I 117 rs2049029716 0.3499 None gnomAD-4.0.0 2.03005E-06
21450 85 S/T 118 None 0.0938 None gnomAD-4.0.0 1.20032E-06
21450 85 S/R 118 None 0.0938 None gnomAD-4.0.0 3.60097E-06
21451 86 L/F 119 rs1576014111 0.9183 None gnomAD-4.0.0 6.84458E-07
21453 88 R/G 121 rs1014690727 0.3445 None gnomAD-2.1.1 4.03E-06
21453 88 R/G 121 rs1014690727 0.3445 None gnomAD-3.1.2 1.97E-05
21453 88 R/G 121 rs1014690727 0.3445 None gnomAD-4.0.0 8.97411E-06
21453 88 R/K 121 None 0.3445 None gnomAD-4.0.0 1.36894E-06
21453 88 R/T 121 rs765575975 0.3445 None gnomAD-4.0.0 1.36894E-06
21454 89 E/A 122 rs373183196 0.3765 None gnomAD-2.1.1 4.03E-06
21456 91 E/K 124 rs1432709459 1.0602 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.3795 None gnomAD-4.0.0 1.59274E-06
21457 92 G/E 125 rs2049025749 0.3795 None gnomAD-4.0.0 1.20032E-06
21460 95 E/K 129 None 0.2983 None gnomAD-4.0.0 1.59286E-06
21461 96 A/V 130 None 0.0756 None gnomAD-4.0.0 1.59305E-06
21462 97 K/R 131 rs1275082313 0.3218 None gnomAD-2.1.1 4.04E-06
21462 97 K/R 131 rs1275082313 0.3218 None gnomAD-4.0.0 1.36914E-06
21462 97 K/T 131 None 0.3218 None gnomAD-4.0.0 6.8457E-07
21463 98 E/K 132 rs1214364121 0.8458 None gnomAD-2.1.1 4.04E-06