W28C (p.Trp28Cys) variant of CYBB (NADPH oxidase 2)
W28C (p.Trp28Cys) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- gnomAD X-37782126-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.49
- CADD 11.50
- PolyPhen-2 0.27
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available