A38T (p.Ala38Thr) variant of LOX (Protein-lysine 6-oxidase)
A38T (p.Ala38Thr) 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.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- Ensembl rs867804256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.01
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available