A22S (p.Ala22Ser) variant of LOX (Protein-lysine 6-oxidase)
A22S (p.Ala22Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- ExAC rs760735762
- TOPMed rs760735762
- gnomAD rs760735762
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.04
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available