R68L (p.Arg68Leu) variant of LOX (Protein-lysine 6-oxidase)
R68L (p.Arg68Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R68L (p.Arg68Leu) variant details
- p.Arg68Leu
- rs994242735
- ClinGen CA360877568
- ClinVar RCV002894293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.11
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available