Y28H (p.Tyr28His) variant of DSP (Desmoplakin)
Y28H (p.Tyr28His) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- rs766454930
- ClinGen CA362675721
- ClinVar RCV003436480
- ClinVar RCV005220706
- Conflicting interpretations
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.31
- MetaLR 0.33
- MetaSVM -0.28
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)