L48F (p.Leu48Phe) variant of DSC2 (Desmocollin-2)
L48F (p.Leu48Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. 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.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- rs769776739
- ClinGen CA031343
- ClinVar RCV000476734
- ClinVar RCV001181378
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.04
- CADD 11.90
- PolyPhen-2 0.03
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- 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)