E34G (p.Glu34Gly) variant of LOX (Protein-lysine 6-oxidase)
E34G (p.Glu34Gly) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- TOPMed rs1392060664
- gnomAD rs1392060664
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.02
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available