I15F (p.Ile15Phe) variant of CYBB (NADPH oxidase 2)
I15F (p.Ile15Phe) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I15F (p.Ile15Phe) variant details
- p.Ile15Phe
- rs781809179
- ClinGen CA412972056
- ClinVar RCV001319779
- ClinVar RCV001835601
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.56
- CADD 17.20
- PolyPhen-2 0.25
- SIFT 0.15
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)