C59W (p.Cys59Trp) variant of CYBB (NADPH oxidase 2)
C59W (p.Cys59Trp) in CYBB (NADPH oxidase 2) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C59W (p.Cys59Trp) variant details
- p.Cys59Trp
- rs151344488
- ClinGen CA219718
- ClinVar RCV000059255
- UniProt VAR 047266
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). (PMID 11462241)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)