L18I (p.Leu18Ile) variant of LOX (Protein-lysine 6-oxidase)
L18I (p.Leu18Ile) 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 not provided; 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.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- rs759346597
- ClinVar RCV004590891
- ClinVar RCV005594831
- ExAC rs759346597
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.02
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available