R69C (p.Arg69Cys) variant of LOX (Protein-lysine 6-oxidase)
R69C (p.Arg69Cys) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- rs1321560490
- gnomAD rs1321560490
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available