Q14* (p.Gln14Ter) variant of LOX (Protein-lysine 6-oxidase)
Q14* (p.Gln14Ter) 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 0.84 / 1. The record also includes population frequency data and structural context.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- rs764190606
- ClinGen CA3384138
- ClinVar RCV003708831
- ExAC rs764190606
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available