W48C (p.Trp48Cys) variant of LOX (Protein-lysine 6-oxidase)
W48C (p.Trp48Cys) 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 0.59 / 1. The record also includes population frequency data and structural context.
W48C (p.Trp48Cys) variant details
- p.Trp48Cys
- rs2532918070
- ClinGen CA360878029
- ClinVar RCV002394568
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- 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