H8Y (p.His8Tyr) variant of DSP (Desmoplakin)
H8Y (p.His8Tyr) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.43 / 1. The record also includes population frequency data and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- gnomAD rs1298527607
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.40
- MetaLR 0.31
- MetaSVM -0.30
- CADD 24.30
- PolyPhen-2 0.78
- SIFT 0.08
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available