Q47* (p.Gln47Ter) variant of LOX (Protein-lysine 6-oxidase)
Q47* (p.Gln47Ter) 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 0.66 / 1. The record also includes population frequency data and structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs2532918093
- ClinGen CA360878072
- ClinVar RCV002389209
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available