W18R (p.Trp18Arg) variant of CYBB (NADPH oxidase 2)
W18R (p.Trp18Arg) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W18R (p.Trp18Arg) variant details
- p.Trp18Arg
- gnomAD X-37782094-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.96
- CADD 27.60
- 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