R388W (p.Arg388Trp) variant of PKP2 (Plakophilin-2)
R388W (p.Arg388Trp) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R388W (p.Arg388Trp) variant details
- p.Arg388Trp
- rs766209297
- ClinGen CA010825
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99298
- Pathogenic/Likely pathogenic
- not provided; Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.51
- MetaLR 0.41
- MetaSVM -0.53
- CADD 27.70
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Arrhythmogenic right ventricular cardiomyopathy; C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)