V52A (p.Val52Ala) variant of DSC2 (Desmocollin-2)
V52A (p.Val52Ala) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- rs1987629779
- ClinGen CA402114995
- ClinVar RCV001186355
- ClinVar RCV002559932
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.60
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)