A61E (p.Ala61Glu) variant of DSC2 (Desmocollin-2)
A61E (p.Ala61Glu) 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; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A61E (p.Ala61Glu) variant details
- p.Ala61Glu
- rs758707293
- ClinGen CA297644507
- ClinVar RCV001190060
- ClinVar RCV002411715
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.21
- AlphaMissense 0.35
- MetaLR 0.22
- MetaSVM -0.65
- CADD 23.80
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)