Q59L (p.Gln59Leu) variant of PKP2 (Plakophilin-2)
Q59L (p.Gln59Leu) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricula. 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.
Q59L (p.Gln59Leu) variant details
- p.Gln59Leu
- rs730880179
- ClinGen CA384370877
- ClinVar RCV002401789
- ClinVar RCV003533235
- Conflicting interpretations
- Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.80
- MetaLR 0.51
- MetaSVM 0.05
- CADD 24.50
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic)
- EBI: Variant of uncertain significance (in ARVD9)
- UniProt: Uncertain significance (in ARVD9)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability. (PMID 19533476)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)