A82T (p.Ala82Thr) variant of LOX (Protein-lysine 6-oxidase)
A82T (p.Ala82Thr) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- rs373294433
- ClinGen CA125917485
- cosmic curated COSV50237
- ClinVar RCV004302476
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.03
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available