Y41* (p.Tyr41Ter) variant of CYBB (NADPH oxidase 2)
Y41* (p.Tyr41Ter) in CYBB (NADPH oxidase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CGDX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- rs1928965653
- ClinGen CA412972643
- ClinVar RCV001907973
- Ensembl rs1928965653
- Pathogenic
- in CGDX
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Population evidence available
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)