S48P (p.Ser48Pro) variant of CYBB (NADPH oxidase 2)
S48P (p.Ser48Pro) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- ExAC rs782055866
- gnomAD rs782055866
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.21
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00066)
- Structural context available