M73T (p.Met73Thr) variant of GFAP (Glial fibrillary acidic protein)
M73T (p.Met73Thr) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
M73T (p.Met73Thr) variant details
- p.Met73Thr
- rs61060395
- ClinGen CA347186
- ClinVar RCV000192103
- UniProt VAR 071524
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.54
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)
- Cited in: Alexander Disease. (PMID 20301351)