R79H (p.Arg79His) variant of GFAP (Glial fibrillary acidic protein)
R79H (p.Arg79His) 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 not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
R79H (p.Arg79His) variant details
- p.Arg79His
- rs59285727
- ClinGen CA217167
- cosmic curated COSV53649
- ClinVar RCV000017553
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)
- Cited in: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID 11567214)