T42K (p.Thr42Lys) variant of CYBB (NADPH oxidase 2)
T42K (p.Thr42Lys) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- gnomAD X-37782167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.79
- CADD 23.80
- PolyPhen-2 0.54
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available