Q67* (p.Gln67Ter) variant of LOX (Protein-lysine 6-oxidase)
Q67* (p.Gln67Ter) 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 0.81 / 1. The record also includes population frequency data and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- rs1459778601
- ClinGen CA360877596
- ClinVar RCV002856688
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available