DSP (Desmoplakin) variants and mutations
DSP (also known as Desmoplakin) is a human protein-coding gene encoding a desmoplakin protein. It anchors intermediate filaments to desmosomes, allowing mechanically stressed tissues such as myocardium and epidermis to maintain strong cell-cell adhesion. Pathogenic variants can cause arrhythmogenic or dilated cardiomyopathy and a range of cardiocutaneous disorders. This analysis covers 4,629 DSP variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes arrhythmogenic cardiomyopathy with wooly hair and keratoderma, arrhythmogenic right ventricular dysplasia 8, and Arrhythmogenic right ventricular dysplasia. Example DSP variants include M1R, M1V, and M1N.
Variant analysis overview
- Gene: DSP
- Protein: Desmoplakin
- UniProt accession: P15924
- Organism: Homo sapiens
- Variants analyzed: 4629
- Variant scope: all variants
- Completed: 2026-08-09
Variant and mutation evidence
- Variant composition: 4,383 unspecified-consequence records; 1 5 prime utr variant; 10 frameshift variants; 130 missense variants; 87 synonymous variants; 5 in-frame deletions; 6 stop-gained variants; 1 in-frame insertions; 1 splice-region variants; 1 stop lost; 4 substitution
- Prediction scores: 3,486 variants have prediction scores (75% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: arrhythmogenic cardiomyopathy with wooly hair and keratoderma, arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia, lethal acantholytic epidermolysis bullosa, cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, keratosis palmoplantaris striata 2, dilated cardiomyopathy, skin fragility-woolly hair-palmoplantar keratoderma syndrome, arrhythmogenic right ventricular cardiomyopathy, woolly hair-skin fragility syndrome, cardiomyopathy, idiopathic pulmonary fibrosis.
Protein structure and variant hotspots
- Protein features: 1 domains; 34 post-translational modification sites.
- Structural context: 85 variants have structural context.
- PTM context: 76 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable DSP variants
Examples include M1R, M1V, M1N, S2G, S2N, S2T, S2F, S2M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1R (p.Met1Arg), rs748738880, ClinGen CA036576, ClinVar RCV000493448, ClinVar RCV001204253, MetaLR 0.30, MetaSVM -0.37, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- M1V (p.Met1Val), rs1131691557, ClinGen CA362675401, ClinVar RCV000494668, ClinVar RCV001188452, MetaLR 0.24, MetaSVM -0.51, Uncertain significance, not provided; Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and
- M1N (p.Met1Asn), rs17133512, gnomAD 6-7541915-C-CA, CADD 21.00
- S2G (p.Ser2Gly), ExAC rs772572496, gnomAD rs772572496, REVEL 0.16, MetaLR 0.13
- S2N (p.Ser2Asn), Ensembl rs2113628400
- S2T (p.Ser2Thr), rs2113628400, ClinGen CA362675411, ClinVar RCV003797825, AlphaMissense 0.28, MetaLR 0.11, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- S2F (p.Ser2Phe), gnomAD 6-7541918-G-GTTTT, CADD 29.00
- S2M (p.Ser2Met), rs2113628405, gnomAD 6-7541919-AGC-A, CADD 28.10
- S2I (p.Ser2Ile), gnomAD 6-7541920-G-T, REVEL 0.24, CADD 24.50
- S2R (p.Ser2Arg), gnomAD 6-7541921-C-A, REVEL 0.17, CADD 22.90
- S2S (p.Ser2Ser), rs776052488, gnomAD 6-7541921-C-T, CADD 15.10
- C3W (p.Cys3Trp), rs769032973, ClinGen CA362675421, ClinVar RCV001768775, ExAC rs769032973, REVEL 0.23, MetaLR 0.15, Uncertain significance, not provided
- C3Y (p.Cys3Tyr), rs760993985, ClinGen CA052985, ClinVar RCV001878417, ExAC rs760993985, REVEL 0.17, MetaLR 0.12, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- C3A (p.Cys3Ala), rs1561669760, gnomAD 6-7541921-CT-C, CADD 25.40
- C3G (p.Cys3Gly), gnomAD 6-7541922-T-G, REVEL 0.13, CADD 22.70
- p.Cys3 Asn4delinsTyr, rs2113628425, gnomAD 6-7541922-TGCA-T, CADD 21.30
- C3* (p.Cys3Ter), gnomAD 6-7541924-C-A, CADD 37.00
- C3C (p.Cys3Cys), rs769032973, gnomAD 6-7541924-C-T, CADD 15.90
- N4K (p.Asn4Lys), rs368802003, ClinGen CA004879, ClinVar RCV000037991, ClinVar RCV000233869, REVEL 0.11, MetaLR 0.11, Benign
- N4S (p.Asn4Ser), ExAC rs776818826, gnomAD rs776818826, REVEL 0.18, MetaLR 0.10, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- N4Y (p.Asn4Tyr), gnomAD 6-7541925-A-T, REVEL 0.16, CADD 26.70
- N4N (p.Asn4Asn), rs368802003, gnomAD 6-7541927-C-T, CADD 14.10
- G5A (p.Gly5Ala), rs1757989474, ClinGen CA362675438, ClinVar RCV001302971, gnomAD rs1757989474, REVEL 0.31, MetaLR 0.36, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- G5R (p.Gly5Arg), gnomAD rs1757989373, REVEL 0.47, MetaLR 0.42, Uncertain significance, Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A
- G5V (p.Gly5Val), gnomAD rs1757989474, REVEL 0.43, MetaLR 0.41, Uncertain significance
- G5* (p.Gly5Ter), gnomAD 6-7541928-G-T, CADD 38.00
- G6A (p.Gly6Ala), rs1339636876, ClinGen CA362675450, ClinVar RCV002019453, ClinVar RCV003235653, REVEL 0.39, MetaLR 0.36, Uncertain significance, not provided; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arr
- G6D (p.Gly6Asp), rs1339636876, ClinGen CA362675446, ClinVar RCV001186715, ClinVar RCV004008626, REVEL 0.42, MetaLR 0.42, Uncertain significance, Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- G6P (p.Gly6Pro), rs2113628481, gnomAD 6-7541929-GAGGCT-, CADD 29.70
- G6S (p.Gly6Ser), gnomAD 6-7541931-G-A, REVEL 0.35, CADD 29.10
- G6C (p.Gly6Cys), gnomAD 6-7541931-G-T, REVEL 0.48, CADD 31.00
- G6V (p.Gly6Val), gnomAD 6-7541932-G-T, REVEL 0.44, CADD 26.00
- G6G (p.Gly6Gly), gnomAD 6-7541933-C-A, CADD 14.50
- S7F (p.Ser7Phe), rs2533800246, ClinGen CA362675469, ClinVar RCV002832864, REVEL 0.35, MetaLR 0.36, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- S7P (p.Ser7Pro), gnomAD 6-7541934-T-C, REVEL 0.38, CADD 29.20
- S7A (p.Ser7Ala), gnomAD 6-7541934-T-G, REVEL 0.26, CADD 26.60
- S7Y (p.Ser7Tyr), gnomAD 6-7541935-C-A, REVEL 0.35, CADD 26.30
- S7S (p.Ser7Ser), rs750532252, gnomAD 6-7541936-C-T, CADD 14.90
- H8L (p.His8Leu), rs2533800283, ClinGen CA362675482, ClinVar RCV004014262, ClinVar RCV005555103, REVEL 0.46, MetaLR 0.30, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera
- H8Q (p.His8Gln), rs1367183114, ClinGen CA362675485, ClinVar RCV004012802, gnomAD rs1367183114, REVEL 0.33, MetaLR 0.28, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- H8Y (p.His8Tyr), gnomAD rs1298527607, REVEL 0.40, MetaLR 0.31, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- H8T (p.His8Thr), rs2113628491, gnomAD 6-7541935-C-CGA, CADD 27.00
- H8R (p.His8Arg), gnomAD 6-7541938-A-G, REVEL 0.41, CADD 23.70
- H8H (p.His8His), gnomAD 6-7541939-C-T, CADD 14.20
- P9L (p.Pro9Leu), TOPMed rs1303669220, gnomAD rs1303669220, REVEL 0.18, MetaLR 0.12, Uncertain significance
- P9Q (p.Pro9Gln), rs1303669220, ClinGen CA362675494, ClinVar RCV001183940, ClinVar RCV002429822, REVEL 0.19, MetaLR 0.15, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- P9S (p.Pro9Ser), ExAC rs763115916, TOPMed rs763115916, gnomAD rs763115916, REVEL 0.08, MetaLR 0.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- P9del (p.Pro9del), rs2113628520, gnomAD 6-7541939-CCCG-C, CADD 21.10
- P9R (p.Pro9Arg), gnomAD 6-7541941-C-G, REVEL 0.21, CADD 23.80
- P9P (p.Pro9Pro), rs766288730, gnomAD 6-7541942-G-C, CADD 15.20
- R10W (p.Arg10Trp), cosmic curated COSV65793, Ensembl rs1757990366, REVEL 0.45, MetaLR 0.32, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- R10G (p.Arg10Gly), gnomAD 6-7541943-C-G, REVEL 0.37, CADD 26.30
- R10Q (p.Arg10Gln), gnomAD 6-7541944-G-A, REVEL 0.30, CADD 31.00
- R10R (p.Arg10Arg), gnomAD 6-7541945-G-A, CADD 13.90
- I11V (p.Ile11Val), rs2533800426, ClinGen CA362675514, ClinVar RCV003030164, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- I11D (p.Ile11Asp), rs2113628539, gnomAD 6-7541944-G-GA, CADD 31.00
- I11N (p.Ile11Asn), gnomAD 6-7541947-T-A, REVEL 0.23, CADD 27.40
- I11I (p.Ile11Ile), gnomAD 6-7541948-C-T, CADD 14.90
- N12H (p.Asn12His), rs1757990554, ClinGen CA362675529, cosmic curated COSV65791, ClinVar RCV001176011, AlphaMissense 0.18, MetaLR 0.32, Uncertain significance, Cardiomyopathy
- N12S (p.Asn12Ser), rs1239489755, ClinGen CA362675539, ClinVar RCV000819322, ClinVar RCV002453876, REVEL 0.22, MetaLR 0.31, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera
- N12Y (p.Asn12Tyr), Ensembl rs1757990554, REVEL 0.42, AlphaMissense 0.18, Uncertain significance
- N12D (p.Asn12Asp), gnomAD 6-7541949-A-G, REVEL 0.24, CADD 27.20
- N12N (p.Asn12Asn), rs886061744, gnomAD 6-7541951-C-T, CADD 14.60
- T13A (p.Thr13Ala), rs2533800505, ClinGen CA362675547, ClinVar RCV003790588, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- T13I (p.Thr13Ile), rs201133637, ClinGen CA039453, ClinVar RCV000799976, ClinVar RCV001176100, REVEL 0.34, MetaLR 0.35, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- T13S (p.Thr13Ser), gnomAD 6-7541949-AAC-A, CADD 27.50
- T13P (p.Thr13Pro), gnomAD 6-7541952-A-C, REVEL 0.45, CADD 27.50
- L14M (p.Leu14Met), TOPMed rs1282398925, REVEL 0.25, MetaLR 0.28, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiovascular ph
- L14V (p.Leu14Val), rs1282398925, ClinGen CA362675557, ClinVar RCV004015989, REVEL 0.24, MetaLR 0.26, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- L14R (p.Leu14Arg), rs768370638, gnomAD 6-7541955-CTG-C, CADD 28.70
- L14Q (p.Leu14Gln), gnomAD 6-7541956-T-A, REVEL 0.39, CADD 28.10
- L14P (p.Leu14Pro), gnomAD 6-7541956-T-C, REVEL 0.55, CADD 28.90
- L14L (p.Leu14Leu), rs1757990829, gnomAD 6-7541957-G-A, CADD 14.30
- G15A (p.Gly15Ala), rs2533800527, ClinGen CA2695198805, ClinVar RCV003416774, Likely pathogenic
- G15D (p.Gly15Asp), rs1265161836, ClinGen CA362675572, ClinVar RCV001071430, ClinVar RCV004000200, REVEL 0.42, MetaLR 0.41, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- G15S (p.Gly15Ser), rs2533800567, ClinGen CA362675570, ClinVar RCV002333738, REVEL 0.35, MetaLR 0.39, Uncertain significance, Cardiovascular phenotype
- G15V (p.Gly15Val), TOPMed rs1265161836, gnomAD rs1265161836, REVEL 0.53, MetaLR 0.41, Uncertain significance
- G15C (p.Gly15Cys), gnomAD 6-7541958-G-T, REVEL 0.56, MetaLR 0.41
- G15G (p.Gly15Gly), rs1757991175, gnomAD 6-7541960-C-T, CADD 14.00
- R16C (p.Arg16Cys), rs754773488, ClinGen CA042557, ClinVar RCV002335302, ClinVar RCV003096430, REVEL 0.47, MetaLR 0.33, Conflicting interpretations, Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly
- R16G (p.Arg16Gly), ExAC rs754773488, gnomAD rs754773488, MetaLR 0.31, MetaSVM -0.33, Likely benign
- R16H (p.Arg16His), rs752387234, ClinGen CA042936, cosmic curated COSV65793, ClinVar RCV001183676, REVEL 0.35, MetaLR 0.35, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- R16L (p.Arg16Leu), ExAC rs752387234, TOPMed rs752387234, gnomAD rs752387234, REVEL 0.48, MetaLR 0.34, Likely benign
- R16P (p.Arg16Pro), rs752387234, ClinGen CA006233, ClinVar RCV000181354, ClinVar RCV000691756, REVEL 0.46, MetaLR 0.35, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- R16S (p.Arg16Ser), rs754773488, ClinGen CA042548, ClinVar RCV000774426, ClinVar RCV003768377, REVEL 0.36, MetaLR 0.31, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- R16del (p.Arg16del), rs1217826914, gnomAD 6-7541958-GGCC-G, CADD 21.10
- R16R (p.Arg16Arg), rs755777329, gnomAD 6-7541963-C-T, CADD 15.10
- M17I (p.Met17Ile), gnomAD rs1378426464, REVEL 0.15, MetaLR 0.14, Uncertain significance, Cardiovascular phenotype
- M17R (p.Met17Arg), rs559248100, ClinGen CA133980064, ClinVar RCV000702559, ClinVar RCV002334360, REVEL 0.33, MetaLR 0.12, Uncertain significance, Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C
- M17T (p.Met17Thr), rs559248100, ClinGen CA362675586, ClinVar RCV001948519, ClinVar RCV004010931, REVEL 0.24, MetaLR 0.14, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- M17V (p.Met17Val), rs1454368792, ClinGen CA362675582, ClinVar RCV003182704, ClinVar RCV006561170, REVEL 0.11, MetaLR 0.11, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- M17L (p.Met17Leu), gnomAD 6-7541964-A-T, REVEL 0.06, MetaLR 0.07
- I18L (p.Ile18Leu), rs1309975219, ClinGen CA362675593, ClinVar RCV003533668, ClinVar RCV004011618, REVEL 0.11, MetaLR 0.09, Uncertain significance, Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- I18M (p.Ile18Met), rs1757992278, ClinGen CA362675604, ClinVar RCV004014186, REVEL 0.10, MetaLR 0.07, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- I18T (p.Ile18Thr), rs769533657, ClinGen CA133980082, ClinVar RCV001525876, Ensembl rs769533657, REVEL 0.06, MetaLR 0.03, Likely benign, Cardiomyopathy
- I18F (p.Ile18Phe), gnomAD 6-7541967-A-T, REVEL 0.18, MetaLR 0.09
- I18I (p.Ile18Ile), rs1757992278, gnomAD 6-7541969-C-T, CADD 14.20
- R19C (p.Arg19Cys), rs777340009, ClinGen CA045323, cosmic curated COSV10532, ClinVar RCV000208151, REVEL 0.44, MetaLR 0.36, Conflicting interpretations, not specified; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 8
- R19G (p.Arg19Gly), rs777340009, ClinGen CA362675608, ClinVar RCV004007854, ExAC rs777340009, REVEL 0.40, MetaLR 0.34, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- R19H (p.Arg19His), rs1757992558, ClinGen CA362675616, ClinVar RCV001956971, ClinVar RCV002344127, REVEL 0.38, MetaLR 0.35, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; not provided
- R19S (p.Arg19Ser), rs777340009, ClinGen CA362675607, ClinVar RCV000794965, ClinVar RCV000841345, REVEL 0.36, MetaLR 0.34, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- R19R (p.Arg19Arg), rs2113628728, gnomAD 6-7541972-C-A, CADD 14.40
- A20T (p.Ala20Thr), gnomAD 6-7541973-G-A, REVEL 0.15, MetaLR 0.11
- A20S (p.Ala20Ser), gnomAD 6-7541973-G-T, REVEL 0.09, MetaLR 0.08
- A20D (p.Ala20Asp), gnomAD 6-7541974-C-A, REVEL 0.27, MetaLR 0.15
- A20A (p.Ala20Ala), gnomAD 6-7541975-C-A, CADD 13.00
- E21A (p.Glu21Ala), TOPMed rs1014465935, gnomAD rs1014465935, Uncertain significance, in ARVD8
- E21D (p.Glu21Asp), rs770404661, ClinGen CA047575, ClinVar RCV004010130, 1000Genomes rs770404661, REVEL 0.15, MetaLR 0.14, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- E21G (p.Glu21Gly), TOPMed rs1014465935, gnomAD rs1014465935, MetaLR 0.25, MetaSVM -0.51, Uncertain significance, in ARVD8
- E21K (p.Glu21Lys), rs747956457, ClinGen CA047042, ClinVar RCV000530910, ClinVar RCV000619337, REVEL 0.28, MetaLR 0.20, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- E21V (p.Glu21Val), gnomAD 6-7541977-A-T, REVEL 0.31, MetaLR 0.27
- E21E (p.Glu21Glu), rs770404661, gnomAD 6-7541978-G-A, CADD 12.70
- S22C (p.Ser22Cys), rs2533800831, ClinGen CA362675653, ClinVar RCV003052111, ClinVar RCV003456302, REVEL 0.37, MetaLR 0.36, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- S22P (p.Ser22Pro), rs2113628752, ClinGen CA362675643, cosmic curated COSV10822, ClinVar RCV001973829, REVEL 0.39, MetaLR 0.32, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- S22A (p.Ser22Ala), gnomAD 6-7541979-T-G, REVEL 0.20, MetaLR 0.25
- S22Y (p.Ser22Tyr), gnomAD 6-7541980-C-A, REVEL 0.39, MetaLR 0.35
- S22S (p.Ser22Ser), gnomAD 6-7541981-T-C, CADD 13.30
- G23S (p.Gly23Ser), rs1757993019, ClinGen CA362675657, ClinVar RCV001176403, ClinVar RCV003293922, REVEL 0.34, MetaLR 0.40, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- G23C (p.Gly23Cys), gnomAD 6-7541982-G-T, REVEL 0.53, MetaLR 0.41
- G23V (p.Gly23Val), gnomAD 6-7541983-G-T, REVEL 0.49, MetaLR 0.41
- G23D (p.Gly23Asp), gnomAD 6-7541983-G-A, REVEL 0.37, MetaLR 0.41
- G23G (p.Gly23Gly), gnomAD 6-7541984-C-T, CADD 13.90
- P24L (p.Pro24Leu), rs978383808, ClinGen CA133980110, ClinVar RCV001337804, ClinVar RCV004005148, REVEL 0.23, MetaLR 0.26, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- P24R (p.Pro24Arg), rs978383808, ClinGen CA362675670, ClinVar RCV001258155, gnomAD rs978383808, REVEL 0.22, MetaLR 0.27, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8
- P24S (p.Pro24Ser), NCI-TCGA Cosmic COSV6579, cosmic curated COSV65792, MetaLR 0.21, MetaSVM -0.68, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- P24Q (p.Pro24Gln), gnomAD 6-7541986-C-A, REVEL 0.15, MetaLR 0.23
- P24P (p.Pro24Pro), gnomAD 6-7541987-G-T, CADD 1.54
- D25Y (p.Asp25Tyr), rs2113628779, ClinGen CA362675684, ClinVar RCV001961130, ClinVar RCV004010996, AlphaMissense 0.57, MetaLR 0.41, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- L26L (p.Leu26Leu), rs71559180, gnomAD 6-7541993-G-C, CADD 8.58
- R27C (p.Arg27Cys), ExAC rs762198350, TOPMed rs762198350, gnomAD rs762198350, REVEL 0.40, MetaLR 0.36, Conflicting interpretations, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 8; Arrhythm
- R27G (p.Arg27Gly), rs762198350, ClinGen CA362675705, ClinVar RCV004518977, REVEL 0.35, MetaLR 0.34, Uncertain significance, Cardiovascular phenotype
- R27H (p.Arg27His), rs770203792, ClinGen CA051507, ClinVar RCV004518978, ClinVar RCV006564858, REVEL 0.35, MetaLR 0.35, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 8; Arrhythm
- R27S (p.Arg27Ser), gnomAD 6-7541994-C-A, REVEL 0.32, MetaLR 0.34
- R27L (p.Arg27Leu), gnomAD 6-7541995-G-T, REVEL 0.39, MetaLR 0.34
- R27R (p.Arg27Arg), rs773559423, gnomAD 6-7541996-C-A, CADD 10.80
- Y28* (p.Tyr28Ter), rs2533800954, ClinGen CA362675731, ClinVar RCV003800426, Pathogenic
- Y28C (p.Tyr28Cys), rs2533800937, ClinGen CA362675725, ClinVar RCV003146866, Uncertain significance, not provided
- Y28D (p.Tyr28Asp), rs766454930, ClinGen CA052008, ClinVar RCV000641812, ClinVar RCV001703220, REVEL 0.44, MetaLR 0.34, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Y28H (p.Tyr28His), rs766454930, ClinGen CA362675721, ClinVar RCV003436480, ClinVar RCV005220706, REVEL 0.31, MetaLR 0.33, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Y28S (p.Tyr28Ser), gnomAD 6-7541998-A-C, REVEL 0.34, MetaLR 0.31
- E29* (p.Glu29Ter), rs1320349488, ClinGen CA362675738, ClinVar RCV001385662, TOPMed rs1320349488, CADD 37.00, Pathogenic
- E29K (p.Glu29Lys), rs1320349488, ClinGen CA362675736, ClinVar RCV002988419, TOPMed rs1320349488, REVEL 0.39, MetaLR 0.33, Likely benign, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- E29Q (p.Glu29Gln), gnomAD 6-7542000-G-C, REVEL 0.23, MetaLR 0.35
- E29G (p.Glu29Gly), gnomAD 6-7542001-A-G, REVEL 0.30, MetaLR 0.32
- E29E (p.Glu29Glu), rs774257234, gnomAD 6-7542002-G-A, CADD 8.00
- E29D (p.Glu29Asp), gnomAD 6-7542002-G-T, REVEL 0.19, MetaLR 0.28
- V30A (p.Val30Ala), rs1757994526, ClinGen CA362675753, ClinVar RCV001179238, Ensembl rs1757994526, AlphaMissense 0.09, MetaLR 0.08, Uncertain significance, Cardiomyopathy
- V30M (p.Val30Met), rs121912998, ClinGen CA004702, ClinVar RCV000018340, ClinVar RCV000029685, REVEL 0.39, MetaLR 0.03, Benign, in ARVD8
- V30L (p.Val30Leu), gnomAD 6-7542003-G-T, REVEL 0.11, MetaLR 0.04
- V30G (p.Val30Gly), gnomAD 6-7542004-T-G, REVEL 0.12, MetaLR 0.09
- V30V (p.Val30Val), gnomAD 6-7542005-G-A, CADD 11.20
- T31A (p.Thr31Ala), ExAC rs767301698, gnomAD rs767301698, REVEL 0.15, MetaLR 0.10
- T31I (p.Thr31Ile), gnomAD 6-7542007-C-T, REVEL 0.10, MetaLR 0.09
- T31N (p.Thr31Asn), gnomAD 6-7542007-C-A, REVEL 0.12, MetaLR 0.08
- T31T (p.Thr31Thr), rs752494572, gnomAD 6-7542008-C-T, CADD 7.65
- S32G (p.Ser32Gly), rs2113628871, ClinGen CA362675780, ClinVar RCV001886827, Ensembl rs2113628871, AlphaMissense 0.05, MetaLR 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- S32N (p.Ser32Asn), rs1235755702, ClinGen CA362675787, ClinVar RCV004013169, ClinVar RCV004555711, REVEL 0.08, MetaLR 0.06, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- S32R (p.Ser32Arg), TOPMed rs1440994214, gnomAD rs1440994214, REVEL 0.03, MetaLR 0.07, Likely benign
- S32S (p.Ser32Ser), rs1440994214, gnomAD 6-7542011-C-T, CADD 12.60
- G33S (p.Gly33Ser), rs1581777550, ClinGen CA362675796, ClinVar RCV000804549, ClinVar RCV001178452, REVEL 0.27, MetaLR 0.32, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- G33C (p.Gly33Cys), gnomAD 6-7542012-G-T, REVEL 0.40, MetaLR 0.41
- G33D (p.Gly33Asp), gnomAD 6-7542013-G-A, REVEL 0.34, MetaLR 0.37
- G33G (p.Gly33Gly), gnomAD 6-7542014-C-A, CADD 11.10
- G34S (p.Gly34Ser), gnomAD 6-7542015-G-A, REVEL 0.21, MetaLR 0.09
- G34C (p.Gly34Cys), gnomAD 6-7542015-G-T, REVEL 0.31, MetaLR 0.19
- G34D (p.Gly34Asp), gnomAD 6-7542016-G-A, REVEL 0.27, MetaLR 0.14
- G34G (p.Gly34Gly), gnomAD 6-7542017-C-A, CADD 13.50
- G35A (p.Gly35Ala), rs202194206, ClinGen CA026887, ClinVar RCV001183279, ClinVar RCV002483998, REVEL 0.29, MetaLR 0.30, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d
- G35V (p.Gly35Val), NCI-TCGA TCGA novel, REVEL 0.37, MetaLR 0.28, Uncertain significance, Cardiomyopathy
- G35W (p.Gly35Trp), gnomAD 6-7542018-G-T, REVEL 0.38, MetaLR 0.39
- G35G (p.Gly35Gly), rs77445784, gnomAD 6-7542020-G-A, CADD 10.80
- G36A (p.Gly36Ala), rs778506459, ClinGen CA026931, ClinVar RCV000486571, ClinVar RCV001176566, REVEL 0.14, MetaLR 0.11, Conflicting interpretations, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d
- G36D (p.Gly36Asp), rs778506459, ClinGen CA362675839, ClinVar RCV004015681, ClinVar RCV006564673, REVEL 0.37, MetaLR 0.25, Uncertain significance, Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- G36R (p.Gly36Arg), TOPMed rs1395509692, gnomAD rs1395509692, MetaLR 0.33, MetaSVM -0.61, Likely benign
- G36S (p.Gly36Ser), rs1395509692, ClinGen CA362675834, ClinVar RCV000520598, ClinVar RCV000621177, REVEL 0.19, MetaLR 0.22, Conflicting interpretations, Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly
- G36V (p.Gly36Val), ExAC rs778506459, TOPMed rs778506459, gnomAD rs778506459, REVEL 0.34, MetaLR 0.16, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- G36del (p.Gly36del), gnomAD 6-7542009-AGCG-A, CADD 19.50
- G36C (p.Gly36Cys), gnomAD 6-7542021-G-T, REVEL 0.34, MetaLR 0.35
- G36G (p.Gly36Gly), rs755510597, gnomAD 6-7542023-C-T, CADD 13.70
- T37A (p.Thr37Ala), rs2533801175, ClinGen CA362675840, ClinVar RCV003182720, ClinVar RCV005209603, REVEL 0.06, MetaLR 0.07, Uncertain significance, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
Public DSP analysis runs
- DSP analysis run — DSP (4,629 variants) — completed 2026-08-09