H338Y (p.His338Tyr) variant of CYBB (NADPH oxidase 2)
H338Y (p.His338Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
H338Y (p.His338Tyr) variant details
- p.His338Tyr
- rs151344484
- ClinGen CA219664
- ClinVar RCV000059225
- ClinVar RCV001385154
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)
- Cited in: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and… (PMID 10914676)