R10W (p.Arg10Trp) variant of DSP (Desmoplakin)
R10W (p.Arg10Trp) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- cosmic curated COSV65793
- Ensembl rs1757990366
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.31
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available