A84V (p.Ala84Val) variant of CYBB (NADPH oxidase 2)
A84V (p.Ala84Val) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- rs944314548
- ClinGen CA328040543
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV001216286
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.29
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)