I15V (p.Ile15Val) variant of CYBB (NADPH oxidase 2)
I15V (p.Ile15Val) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs781809179
- ClinGen CA10383629
- ClinVar RCV001490183
- ClinVar RCV001832638
- Likely benign
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.29
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (Granulomatous disease, chronic, X-linked)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.0065)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)