L18R (p.Leu18Arg) variant of LOX (Protein-lysine 6-oxidase)
L18R (p.Leu18Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- ExAC rs776769725
- gnomAD rs776769725
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available