G42E (p.Gly42Glu) variant of PKP2 (Plakophilin-2)
G42E (p.Gly42Glu) 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 dysplasia 9; Arrhythmogenic right ventricular c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs2541384586
- ClinGen CA384371241
- ClinVar RCV003837804
- ClinVar RCV004006107
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- MetaLR 0.56
- MetaSVM -0.08
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic rig)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)