A51V (p.Ala51Val) variant of CYBB (NADPH oxidase 2)
A51V (p.Ala51Val) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- Ensembl rs1602174897
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available