C64C (p.Cys64Cys) variant of CYBB (NADPH oxidase 2)
C64C (p.Cys64Cys) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C64C (p.Cys64Cys) variant details
- p.Cys64Cys
- gnomAD X-37783540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available