A61G (p.Ala61Gly) variant of DSC2 (Desmocollin-2)
A61G (p.Ala61Gly) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A61G (p.Ala61Gly) variant details
- p.Ala61Gly
- rs758707293
- ClinGen CA033383
- ClinVar RCV000794878
- ClinVar RCV002406739
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.21
- AlphaMissense 0.35
- MetaLR 0.22
- MetaSVM -0.65
- CADD 25.60
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)