L264P (p.Leu264Pro) variant of GFAP (Glial fibrillary acidic protein)
L264P (p.Leu264Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of Alexander disease. The record also includes published literature and structural context.
L264P (p.Leu264Pro) variant details
- p.Leu264Pro
- rs797044580
- ClinGen CA347208
- ClinVar RCV000192146
- Ensembl rs797044580
- not provided
- Alexander disease
- Missense
- ClinVar: not provided (Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)