W10R (p.Trp10Arg) variant of DSC2 (Desmocollin-2)
W10R (p.Trp10Arg) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
W10R (p.Trp10Arg) variant details
- p.Trp10Arg
- rs1987977039
- ClinGen CA402115284
- ClinVar RCV001188825
- ClinVar RCV002295335
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0406
- REVEL 0.03
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)