E34Q (p.Glu34Gln) variant of LOX (Protein-lysine 6-oxidase)
E34Q (p.Glu34Gln) 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; 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.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs777431502
- ClinGen CA3384122
- ClinVar RCV002440035
- ClinVar RCV003738276
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.02
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available