G247E (p.Gly247Glu) variant of PKP2 (Plakophilin-2)
G247E (p.Gly247Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G247E (p.Gly247Glu) variant details
- p.Gly247Glu
- rs767647926
- ExAC rs767647926
- gnomAD rs767647926
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.28
- MetaLR 0.61
- MetaSVM -0.47
- CADD 23.40
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available