G389A (p.Gly389Ala) variant of CYBB (NADPH oxidase 2)
G389A (p.Gly389Ala) 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 0.97 / 1. The record also includes published literature and structural context.
G389A (p.Gly389Ala) variant details
- p.Gly389Ala
- rs137854586
- ClinGen CA121232
- ClinVar RCV000011668
- ClinVar RCV000059232
- Pathogenic
- Granulomatous disease, chronic, X-linked, variant
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)