F40I (p.Phe40Ile) variant of CYBB (NADPH oxidase 2)
F40I (p.Phe40Ile) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
F40I (p.Phe40Ile) variant details
- p.Phe40Ile
- rs1556464576
- ClinGen CA412972629
- ClinVar RCV003622604
- gnomAD rs1556464576
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.69
- MetaLR 0.65
- MetaSVM -0.14
- PolyPhen-2 0.01
- SIFT 0.30
- MutPred 0.39
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)