F62L (p.Phe62Leu) variant of CYBB (NADPH oxidase 2)
F62L (p.Phe62Leu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- gnomAD X-37783534-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.74
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available