E34K (p.Glu34Lys) variant of LOX (Protein-lysine 6-oxidase)
E34K (p.Glu34Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- ExAC rs777431502
- TOPMed rs777431502
- gnomAD rs777431502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.02
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available