G75E (p.Gly75Glu) variant of PKP2 (Plakophilin-2)
G75E (p.Gly75Glu) 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; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- rs267603443
- ClinGen CA235267475
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50731
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.46
- MetaLR 0.79
- MetaSVM 0.02
- CADD 31.00
- PolyPhen-2 0.83
- SIFT 0.07
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; not specified; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)