G77V (p.Gly77Val) variant of DSC2 (Desmocollin-2)
G77V (p.Gly77Val) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia; Ar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G77V (p.Gly77Val) variant details
- p.Gly77Val
- rs761544006
- ClinGen CA036157
- ClinVar RCV001175927
- ClinVar RCV003631178
- Uncertain significance
- Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia; Ar
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.83
- AlphaMissense 0.82
- MetaLR 0.85
- MetaSVM 0.89
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Familial isolated arrhythmogenic right ventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)