V6E (p.Val6Glu) variant of CYBB (NADPH oxidase 2)
V6E (p.Val6Glu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V6E (p.Val6Glu) variant details
- p.Val6Glu
- gnomAD X-37780094-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.37
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available