E29K (p.Glu29Lys) variant of DSP (Desmoplakin)
E29K (p.Glu29Lys) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs1320349488
- ClinGen CA362675736
- ClinVar RCV002988419
- TOPMed rs1320349488
- Likely benign
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.39
- MetaLR 0.33
- MetaSVM -0.26
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Likely benign (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)