L15F (p.Leu15Phe) variant of LOX (Protein-lysine 6-oxidase)
L15F (p.Leu15Phe) 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 0.26 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs2532918526
- ClinGen CA360878790
- ClinVar RCV003187658
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available