Y12C (p.Tyr12Cys) variant of PKP2 (Plakophilin-2)
Y12C (p.Tyr12Cys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- rs763433296
- ClinGen CA037040
- ClinVar RCV001178390
- ClinVar RCV001352524
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular cardiomyopathy; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.70
- MetaLR 0.66
- MetaSVM 0.40
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)