R79G (p.Arg79Gly) variant of GFAP (Glial fibrillary acidic protein)
R79G (p.Arg79Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature.
R79G (p.Arg79Gly) variant details
- p.Arg79Gly
- rs59793293
- ClinGen CA217165
- ClinVar RCV000056867
- ClinVar RCV000192109
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.05
- PolyPhen-2 0.47
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. (PMID 12034785)
- Cited in: Alexander Disease. (PMID 20301351)