A4V (p.Ala4Val) variant of DSC2 (Desmocollin-2)
A4V (p.Ala4Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1196096745
- ClinGen CA402115312
- ClinVar RCV003225459
- ClinVar RCV006474067
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.40
- SIFT 0.03
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)