R69H (p.Arg69His) variant of LOX (Protein-lysine 6-oxidase)
R69H (p.Arg69His) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- gnomAD rs1257821615
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.08
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available