Y41D (p.Tyr41Asp) variant of CYBB (NADPH oxidase 2)
Y41D (p.Tyr41Asp) 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 0.93 / 1. The record also includes published literature and structural context.
Y41D (p.Tyr41Asp) variant details
- p.Tyr41Asp
- rs151344453
- ClinGen CA219681
- ClinVar RCV000059234
- UniProt VAR 025613
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID 12139950)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)