E46K (p.Glu46Lys) variant of DSC2 (Desmocollin-2)
E46K (p.Glu46Lys) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs180908546
- ClinGen CA031153
- cosmic curated COSV51870
- ClinVar RCV000644631
- Conflicting interpretations
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)