V27A (p.Val27Ala) variant of CYBB (NADPH oxidase 2)
V27A (p.Val27Ala) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- gnomAD X-37782122-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.47
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available