E21K (p.Glu21Lys) variant of DSP (Desmoplakin)
E21K (p.Glu21Lys) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs747956457
- ClinGen CA047042
- ClinVar RCV000530910
- ClinVar RCV000619337
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.60
- CADD 24.40
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Likely benign (in ARVD8)
- UniProt: Likely benign (in ARVD8)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype… (PMID 28527814)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)