Q30* (p.Gln30Ter) variant of LOX (Protein-lysine 6-oxidase)
Q30* (p.Gln30Ter) 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 0.66 / 1. The record also includes population frequency data and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- rs2532918329
- ClinGen CA360878512
- ClinVar RCV002876571
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available