T178P (p.Thr178Pro) variant of CYBB (NADPH oxidase 2)
T178P (p.Thr178Pro) 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 0.89 / 1. The record also includes published literature and structural context.
T178P (p.Thr178Pro) variant details
- p.Thr178Pro
- rs151344497
- ClinGen CA128806
- ClinVar RCV000022862
- ClinVar RCV000059260
- Pathogenic
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (X-linked Mendelian susceptibility to mycobacterial diseases due)
- EBI: Pathogenic (in IMD34)
- UniProt: Pathogenic (in IMD34)
- Structural context available
- Cited in: Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous… (PMID 21278736)