S11F (p.Ser11Phe) variant of CYBB (NADPH oxidase 2)
S11F (p.Ser11Phe) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- rs1373814247
- ClinGen CA412972012
- ClinVar RCV003879026
- Ensembl rs1373814247
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.03
- 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 3.6e-06)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)