L48V (p.Leu48Val) variant of DSC2 (Desmocollin-2)
L48V (p.Leu48Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs769776739
- ClinGen CA402115030
- ClinVar RCV002012410
- ExAC rs769776739
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- CADD 13.00
- PolyPhen-2 0.20
- SIFT 0.15
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)