E75K (p.Glu75Lys) variant of GFAP (Glial fibrillary acidic protein)
E75K (p.Glu75Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alexander disease. The record also includes published literature.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- rs2508949834
- ClinVar RCV004595172
- Uncertain significance
- Alexander disease
- Missense
- ClinVar: Uncertain significance (Alexander disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)