R19C (p.Arg19Cys) variant of DSP (Desmoplakin)
R19C (p.Arg19Cys) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs777340009
- ClinGen CA045323
- cosmic curated COSV10532
- ClinVar RCV000208151
- Conflicting interpretations
- not specified; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- MetaLR 0.36
- MetaSVM -0.21
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiomyopathy; Arrhythmogenic right ventricular)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)