R5L (p.Arg5Leu) variant of DSC2 (Desmocollin-2)
R5L (p.Arg5Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- rs899009158
- ClinGen CA297652484
- ClinVar RCV001126682
- ClinVar RCV001176570
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.04
- CADD 12.60
- PolyPhen-2 0.10
- SIFT 0.54
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- 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)