A79G (p.Ala79Gly) variant of LOX (Protein-lysine 6-oxidase)
A79G (p.Ala79Gly) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AAT10. 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.
A79G (p.Ala79Gly) variant details
- p.Ala79Gly
- TOPMed rs1222238231
- gnomAD rs1222238231
- Uncertain significance
- in AAT10
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: uncertain significance (in AAT10)
- UniProt: Uncertain significance (in AAT10)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available