R185W (p.Arg185Trp) variant of PKP2 (Plakophilin-2)
R185W (p.Arg185Trp) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R185W (p.Arg185Trp) variant details
- p.Arg185Trp
- rs571569344
- ClinGen CA037878
- NCI-TCGA Cosmic COSV5072
- cosmic curated COSV50726
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.57
- MetaLR 0.64
- MetaSVM -0.45
- CADD 23.10
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic rig)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)