A156T (p.Ala156Thr) variant of CYBB (NADPH oxidase 2)
A156T (p.Ala156Thr) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A156T (p.Ala156Thr) variant details
- p.Ala156Thr
- rs137854590
- ClinGen CA121241
- ClinVar RCV000011672
- ClinVar RCV000059259
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.50
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. (PMID 1710153)
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)