R250L (p.Arg250Leu) variant of PKP2 (Plakophilin-2)
R250L (p.Arg250Leu) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R250L (p.Arg250Leu) variant details
- p.Arg250Leu
- rs369332786
- ClinGen CA038633
- ClinVar RCV000694870
- ClinVar RCV002388260
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.59
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)