A84S (p.Ala84Ser) variant of CYBB (NADPH oxidase 2)
A84S (p.Ala84Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A84S (p.Ala84Ser) variant details
- p.Ala84Ser
- gnomAD X-37783598-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.27
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available