R73Q (p.Arg73Gln) variant of CYBB (NADPH oxidase 2)
R73Q (p.Arg73Gln) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs781887034
- ClinGen CA412972852
- NCI-TCGA Cosmic COSV6608
- ClinVar RCV001950313
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)