A22G (p.Ala22Gly) variant of LOX (Protein-lysine 6-oxidase)
A22G (p.Ala22Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs933016321
- ClinGen CA125917678
- ClinVar RCV002889430
- TOPMed rs933016321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.07
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available