E2K (p.Glu2Lys) variant of DSC2 (Desmocollin-2)
E2K (p.Glu2Lys) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs762556795
- ClinGen CA022856
- ClinVar RCV000181170
- ClinVar RCV000546172
- Conflicting interpretations
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0032)
- 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)