A28V (p.Ala28Val) variant of DSC2 (Desmocollin-2)
A28V (p.Ala28Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs865966331
- ClinGen CA297645681
- ClinVar RCV004008095
- Ensembl rs865966331
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.24
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available