R16W (p.Arg16Trp) variant of DSC2 (Desmocollin-2)
R16W (p.Arg16Trp) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Familial isolated arrhythmogenic right ventricular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1987975647
- ClinGen CA402115244
- ClinVar RCV001180515
- ClinVar RCV004006664
- Uncertain significance
- not provided; Cardiomyopathy; Familial isolated arrhythmogenic right ventricular
- Missense
- Variant Prioritization Score for Impact Estimate 0.0762
- REVEL 0.05
- CADD 6.37
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Familial isolated arrhythmogenic r)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)