E102K (p.Glu102Lys) variant of DSC2 (Desmocollin-2)
E102K (p.Glu102Lys) 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; not specified; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs144799937
- ClinGen CA022786
- ClinVar RCV000039432
- ClinVar RCV000148467
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Familial isolated arrhy)
- EBI: Likely benign (in ARVD11)
- UniProt: Likely benign (in ARVD11)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect… (PMID 17963498)
- Cited in: DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. (PMID 36768812)