P37L (p.Pro37Leu) variant of CYBB (NADPH oxidase 2)
P37L (p.Pro37Leu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD X-37782152-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.34
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available