I35M (p.Ile35Met) variant of CYBB (NADPH oxidase 2)
I35M (p.Ile35Met) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I35M (p.Ile35Met) variant details
- p.Ile35Met
- gnomAD X-37782147-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.21
- CADD 3.56
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available