W42* (p.Trp42Ter) variant of LOX (Protein-lysine 6-oxidase)
W42* (p.Trp42Ter) in LOX (Protein-lysine 6-oxidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W42* (p.Trp42Ter) variant details
- p.Trp42Ter
- rs886040966
- ClinGen CA10590102
- ClinVar RCV000258033
- ClinVar RCV000755141
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (PMID 26838787)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)