R79C (p.Arg79Cys) variant of GFAP (Glial fibrillary acidic protein)
R79C (p.Arg79Cys) 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 0.77 / 1. The record also includes population frequency data and published literature.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- rs59793293
- ClinGen CA217166
- cosmic curated COSV99493
- ClinVar RCV000017554
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)
- Cited in: Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. (PMID 12034785)