E58D (p.Glu58Asp) variant of PKP2 (Plakophilin-2)
E58D (p.Glu58Asp) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- rs146708884
- ClinGen CA011366
- ClinVar RCV000038182
- ClinVar RCV000250199
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.73
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign (in dbSNP:rs146708884)
- UniProt: Benign (in dbSNP:rs146708884)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or… (PMID 19955750)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)