P415L (p.Pro415Leu) variant of CYBB (NADPH oxidase 2)
P415L (p.Pro415Leu) 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 0.95 / 1. The record also includes published literature and structural context.
P415L (p.Pro415Leu) variant details
- p.Pro415Leu
- rs137854585
- ClinGen CA219687
- ClinVar RCV000059238
- ClinVar RCV002513777
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- 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: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)