M1V (p.Met1Val) variant of CYBB (NADPH oxidase 2)
M1V (p.Met1Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2146801935
- ClinGen CA412971887
- ClinVar RCV001560032
- ClinVar RCV004594361
- Pathogenic
- Granulomatous disease, chronic, X-linked; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)