S142P (p.Ser142Pro) variant of CYBB (NADPH oxidase 2)
S142P (p.Ser142Pro) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S142P (p.Ser142Pro) variant details
- p.Ser142Pro
- rs2146810272
- ClinGen CA412975338
- ClinVar RCV002047910
- ClinVar RCV004809727
- Likely pathogenic
- not provided; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.87
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.85
- ClinVar: Likely pathogenic (not provided; Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)