I46V (p.Ile46Val) variant of LOX (Protein-lysine 6-oxidase)
I46V (p.Ile46Val) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- TOPMed rs973193565
- gnomAD rs973193565
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available