R196C (p.Arg196Cys) variant of PKP2 (Plakophilin-2)
R196C (p.Arg196Cys) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R196C (p.Arg196Cys) variant details
- p.Arg196Cys
- rs748957791
- ClinGen CA012402
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50735
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular cardiomyopathy; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- MetaLR 0.75
- MetaSVM -0.24
- CADD 25.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)