L76I (p.Leu76Ile) variant of GFAP (Glial fibrillary acidic protein)
L76I (p.Leu76Ile) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ALXDRD.
L76I (p.Leu76Ile) variant details
- p.Leu76Ile
- Ensembl rs57120761
- Pathogenic
- in ALXDRD
- Missense
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)