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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

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/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
21367 2 P/T 2 None 0.1024 None gnomAD-4.0.0 6.86244E-07
21368 3 D/H 3 None 0.2990 None gnomAD-4.0.0 6.85379E-07
21368 3 D/N 3 rs1462401348 0.2990 None gnomAD-4.0.0 6.85379E-07
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
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/I 7 None 0.7378 None gnomAD-4.0.0 6.84762E-07
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
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/L 12 rs371670651 0.1610 None gnomAD-4.0.0 6.84636E-07
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
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/E 17 None 0.6048 None gnomAD-4.0.0 1.20032E-06
21380 15 K/R 17 rs2049068326 0.6048 None gnomAD-4.0.0 2.05359E-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/S 25 None 0.4292 None gnomAD-4.0.0 1.59276E-06
21388 23 L/V 25 None 0.4292 None gnomAD-4.0.0 6.84484E-07
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/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
21392 27 R/G 29 None 0.5248 None gnomAD-4.0.0 6.84489E-07
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/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/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
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 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 1000 genomes 5.07588E-01
21403 38 T/I 40 rs2042996 0.1161 None gnomAD-4.0.0 2.75244E-01
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
21404 39 S/T 41 None 0.0964 None gnomAD-4.0.0 1.59264E-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 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 1000 genomes 1.99681E-04
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 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 1000 genomes 5.99042E-04
21418 53 Y/S 68 rs573165930 0.2601 None gnomAD-4.0.0 1.54971E-05
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
21420 55 V/L 75 None 0.4194 None gnomAD-4.0.0 1.59254E-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/Q 89 None 0.2809 None gnomAD-4.0.0 1.20032E-06
21424 59 L/V 89 None 0.2809 None gnomAD-4.0.0 1.36889E-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/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
21428 63 V/F 93 None 0.0800 None gnomAD-4.0.0 1.59263E-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/E 100 None 0.3113 None gnomAD-4.0.0 1.36892E-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
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/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
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
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/R 118 None 0.0938 None gnomAD-4.0.0 3.60097E-06
21450 85 S/T 118 None 0.0938 None gnomAD-4.0.0 1.20032E-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/E 125 rs2049025749 0.3795 None gnomAD-4.0.0 1.20032E-06
21457 92 G/R 125 None 0.3795 None gnomAD-4.0.0 1.59274E-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