L25F (p.Leu25Phe) variant of CYBB (NADPH oxidase 2)
L25F (p.Leu25Phe) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- gnomAD X-37782115-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.81
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available