A38S (p.Ala38Ser) variant of LOX (Protein-lysine 6-oxidase)
A38S (p.Ala38Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs867804256
- ClinGen CA125917604
- ClinVar RCV001771440
- Ensembl rs867804256
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.03
- CADD 14.80
- PolyPhen-2 0.16
- SIFT 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available