W48R (p.Trp48Arg) variant of LOX (Protein-lysine 6-oxidase)
W48R (p.Trp48Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.53 / 1. The record also includes population frequency data and structural context.
W48R (p.Trp48Arg) variant details
- p.Trp48Arg
- gnomAD rs1223161697
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.45
- CADD 28.30
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available