R16H (p.Arg16His) variant of DSP (Desmoplakin)
R16H (p.Arg16His) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs752387234
- ClinGen CA042936
- cosmic curated COSV65793
- ClinVar RCV001183676
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- MetaLR 0.35
- MetaSVM -0.21
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)