H101R (p.His101Arg) variant of CYBB (NADPH oxidase 2)
H101R (p.His101Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
H101R (p.His101Arg) variant details
- p.His101Arg
- rs137854591
- ClinGen CA121243
- ClinVar RCV000011673
- ClinVar RCV000059257
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. (PMID 1710153)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)