F62Y (p.Phe62Tyr) variant of CYBB (NADPH oxidase 2)
F62Y (p.Phe62Tyr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F62Y (p.Phe62Tyr) variant details
- p.Phe62Tyr
- gnomAD X-37783533-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.86
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available