C64S (p.Cys64Ser) variant of CYBB (NADPH oxidase 2)
C64S (p.Cys64Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C64S (p.Cys64Ser) variant details
- p.Cys64Ser
- gnomAD X-37783539-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.89
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available