F58V (p.Phe58Val) variant of DSC2 (Desmocollin-2)
F58V (p.Phe58Val) 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; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F58V (p.Phe58Val) variant details
- p.Phe58Val
- rs138749562
- ClinGen CA022550
- ClinVar RCV000150527
- ClinVar RCV000725685
- Conflicting interpretations
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.05
- AlphaMissense 0.42
- MetaLR 0.06
- MetaSVM -1.00
- CADD 20.90
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.011)
- 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)