E56D (p.Glu56Asp) variant of DSC2 (Desmocollin-2)
E56D (p.Glu56Asp) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- rs1555640202
- ClinGen CA402114967
- ClinVar RCV000644647
- Ensembl rs1555640202
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.074
- REVEL 0.04
- CADD 7.37
- PolyPhen-2 0.23
- SIFT 0.08
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- 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)