K38R (p.Lys38Arg) variant of CYBB (NADPH oxidase 2)
K38R (p.Lys38Arg) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD X-37782155-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.22
- CADD 1.87
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available