C244S (p.Cys244Ser) variant of CYBB (NADPH oxidase 2)
C244S (p.Cys244Ser) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked, variant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C244S (p.Cys244Ser) variant details
- p.Cys244Ser
- rs137854589
- ClinGen CA121239
- ClinVar RCV000011671
- ClinVar RCV000059278
- Pathogenic
- Granulomatous disease, chronic, X-linked, variant
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked, variant)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. (PMID 1710153)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)