L123P (p.Leu123Pro) variant of GFAP (Glial fibrillary acidic protein)
L123P (p.Leu123Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alexander disease. The record also includes published literature and structural context.
L123P (p.Leu123Pro) variant details
- p.Leu123Pro
- rs2508948888
- ClinGen CA399848237
- ClinVar RCV002463390
- Likely pathogenic
- Alexander disease
- Missense
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic
- UniProt: Likely 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)