A13V (p.Ala13Val) variant of DSC2 (Desmocollin-2)
A13V (p.Ala13Val) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia; not provided; Arrh. 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.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs1404155315
- ClinGen CA402115260
- ClinVar RCV001763226
- ClinVar RCV002538832
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia; not provided; Arrh
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.01
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)