S48L (p.Ser48Leu) variant of CYBB (NADPH oxidase 2)
S48L (p.Ser48Leu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- gnomAD X-37783491-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available