A74T (p.Ala74Thr) variant of LOX (Protein-lysine 6-oxidase)
A74T (p.Ala74Thr) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- Ensembl rs1754684891
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.02
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Population evidence available
- Structural context available