A84E (p.Ala84Glu) variant of CYBB (NADPH oxidase 2)
A84E (p.Ala84Glu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A84E (p.Ala84Glu) variant details
- p.Ala84Glu
- gnomAD X-37783599-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.59
- CADD 16.50
- PolyPhen-2 0.39
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available