R55W (p.Arg55Trp) variant of PKP2 (Plakophilin-2)
R55W (p.Arg55Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- rs2541384358
- ClinGen CA384370962
- ClinVar RCV003071783
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.65
- MetaLR 0.68
- MetaSVM 0.40
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- 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: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)