R27C (p.Arg27Cys) variant of DSP (Desmoplakin)
R27C (p.Arg27Cys) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 8; Arrhythm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- ExAC rs762198350
- TOPMed rs762198350
- gnomAD rs762198350
- Conflicting interpretations
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 8; Arrhythm
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- MetaLR 0.36
- MetaSVM -0.21
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available