D500Y (p.Asp500Tyr) variant of CYBB (NADPH oxidase 2)
D500Y (p.Asp500Tyr) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D500Y (p.Asp500Tyr) variant details
- p.Asp500Tyr
- rs886039563
- ClinGen CA412978418
- ClinVar RCV003332534
- ClinVar RCV003509811
- Pathogenic
- not provided; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)