R101C (p.Arg101Cys) variant of PKP2 (Plakophilin-2)
R101C (p.Arg101Cys) 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 cardiomyopathy; Cardiomyopathy; Arrhythmogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs796827562
- ClinGen CA235267357
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50730
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; Arrhythmogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.36
- MetaLR 0.39
- MetaSVM -0.72
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)