Q231P (p.Gln231Pro) variant of CYBB (NADPH oxidase 2)
Q231P (p.Gln231Pro) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes published literature and structural context.
Q231P (p.Gln231Pro) variant details
- p.Gln231Pro
- rs151344498
- ClinGen CA128804
- ClinVar RCV000022861
- ClinVar RCV000059275
- Pathogenic
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.50
- ClinVar: Pathogenic (X-linked Mendelian susceptibility to mycobacterial diseases due)
- EBI: Pathogenic (in IMD34)
- UniProt: Pathogenic (in IMD34)
- Structural context available
- Cited in: A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. (PMID 17293536)
- Cited in: Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous… (PMID 21278736)