H101Y (p.His101Tyr) variant of CYBB (NADPH oxidase 2)
H101Y (p.His101Tyr) 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 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.
H101Y (p.His101Tyr) variant details
- p.His101Tyr
- rs137854594
- ClinGen CA121252
- ClinVar RCV000011679
- ClinVar RCV000059256
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and… (PMID 10914676)
- Cited in: A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic… (PMID 9856476)