A57V (p.Ala57Val) variant of CYBB (NADPH oxidase 2)
A57V (p.Ala57Val) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CGDX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- TOPMed rs151344481
- Pathogenic
- in CGDX
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.01
- CADD 29.40
- PolyPhen-2 1.00
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available