V23I (p.Val23Ile) variant of CYBB (NADPH oxidase 2)
V23I (p.Val23Ile) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs781986436
- ClinGen CA10383642
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV003088597
- Likely benign
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.32
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Likely benign (Granulomatous disease, chronic, X-linked)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)