A17G (p.Ala17Gly) variant of LOX (Protein-lysine 6-oxidase)
A17G (p.Ala17Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- ExAC rs765159521
- TOPMed rs765159521
- gnomAD rs765159521
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available