A17E (p.Ala17Glu) variant of LOX (Protein-lysine 6-oxidase)
A17E (p.Ala17Glu) 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 0.20 / 1. The record also includes population frequency data and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- rs765159521
- ClinGen CA3384136
- ClinVar RCV003187656
- ExAC rs765159521
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available