M73I (p.Met73Ile) variant of GFAP (Glial fibrillary acidic protein)
M73I (p.Met73Ile) 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 not provided; Alexander disease. The record also includes structural context.
M73I (p.Met73Ile) variant details
- p.Met73Ile
- rs2508949861
- ClinGen CA399848755
- ClinVar RCV003062100
- Likely pathogenic
- not provided; Alexander disease
- Missense
- ClinVar: Likely pathogenic (not provided; Alexander disease)
- EBI: Likely pathogenic (in ALXDRD)
- UniProt: Likely pathogenic (in ALXDRD)
- Structural context available