A84A (p.Ala84Ala) variant of CYBB (NADPH oxidase 2)
A84A (p.Ala84Ala) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A84A (p.Ala84Ala) variant details
- p.Ala84Ala
- rs387906485
- gnomAD X-37783600-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 25.90
- Population evidence available
- Structural context available
- Cited in: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and… (PMID 10914676)
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)