W48* (p.Trp48Ter) variant of LOX (Protein-lysine 6-oxidase)
W48* (p.Trp48Ter) in LOX (Protein-lysine 6-oxidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely 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.
W48* (p.Trp48Ter) variant details
- p.Trp48Ter
- rs2532918070
- ClinGen CA360878025
- ClinVar RCV002470472
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)