Y41C (p.Tyr41Cys) variant of CYBB (NADPH oxidase 2)
Y41C (p.Tyr41Cys) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CGDX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in CGDX
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.83
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in CGDX)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available