R69L (p.Arg69Leu) variant of LOX (Protein-lysine 6-oxidase)
R69L (p.Arg69Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- rs1257821615
- ClinGen CA360877549
- ClinVar RCV004513488
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- CADD 25.40
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available