R16C (p.Arg16Cys) variant of DSP (Desmoplakin)
R16C (p.Arg16Cys) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs754773488
- ClinGen CA042557
- ClinVar RCV002335302
- ClinVar RCV003096430
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyopathy with wooly
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.47
- MetaLR 0.33
- MetaSVM -0.31
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Arrhythmogenic cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)