G223L (p.Gly223Leu) variant of CYBB (NADPH oxidase 2)
G223L (p.Gly223Leu) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G223L (p.Gly223Leu) variant details
- p.Gly223Leu
- rs151344464
- ClinGen CA219743
- ClinVar RCV000059272
- ClinVar RCV005890405
- Likely pathogenic
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.59
- ClinVar: Likely pathogenic (X-linked Mendelian susceptibility to mycobacterial diseases due)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)