G52E (p.Gly52Glu) variant of LOX (Protein-lysine 6-oxidase)
G52E (p.Gly52Glu) in LOX (Protein-lysine 6-oxidase) 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 0.60 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- TOPMed rs1459190604
- gnomAD rs1459190604
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.49
- CADD 26.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available