R101L (p.Arg101Leu) variant of PKP2 (Plakophilin-2)
R101L (p.Arg101Leu) 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; Arrhythmogenic right ventricular cardiomyopathy; Cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- rs149542398
- ClinGen CA235267349
- ClinVar RCV002435993
- ClinVar RCV003111558
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular cardiomyopathy; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.85
- CADD 9.92
- PolyPhen-2 0.05
- SIFT 0.67
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular cardi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-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)