A55D (p.Ala55Asp) variant of CYBB (NADPH oxidase 2)
A55D (p.Ala55Asp) in CYBB (NADPH oxidase 2) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A55D (p.Ala55Asp) variant details
- p.Ala55Asp
- rs151344480
- ClinGen CA219712
- ClinVar RCV000059252
- UniProt VAR 025615
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: not provided (not provided)
- 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: Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic… (PMID 9667376)