L8R (p.Leu8Arg) variant of LOX (Protein-lysine 6-oxidase)
L8R (p.Leu8Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD rs1754693346
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available