V14A (p.Val14Ala) variant of CYBB (NADPH oxidase 2)
V14A (p.Val14Ala) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- TOPMed rs1556464121
- gnomAD rs1556464121
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.80
- CADD 25.40
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available