D44G (p.Asp44Gly) variant of DSC2 (Desmocollin-2)
D44G (p.Asp44Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- rs2510957192
- ClinGen CA402115056
- ClinVar RCV004016345
- ClinVar RCV006551046
- Uncertain significance
- Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.03
- 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 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)