Q19E (p.Gln19Glu) variant of PKP2 (Plakophilin-2)
Q19E (p.Gln19Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- rs1261917007
- ClinGen CA384371634
- ClinVar RCV004013215
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -0.79
- CADD 20.10
- PolyPhen-2 0.11
- SIFT 0.05
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- 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)