A79T (p.Ala79Thr) variant of LOX (Protein-lysine 6-oxidase)
A79T (p.Ala79Thr) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- rs752839330
- ClinGen CA3384092
- ClinVar RCV000755147
- ClinVar RCV001584449
- Conflicting interpretations
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0942
- REVEL 0.02
- CADD 5.38
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiovascular phenotype)
- EBI: Benign (in AAT10)
- UniProt: Benign (in AAT10)
- Most common in the Non-Finnish European population (allele frequency 0.00029)
- Structural context available
- Cited in: LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (PMID 26838787)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)