R239C (p.Arg239Cys) variant of GFAP (Glial fibrillary acidic protein)
R239C (p.Arg239Cys) 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 0.90 / 1. The record also includes published literature.
R239C (p.Arg239Cys) variant details
- p.Arg239Cys
- rs58064122
- ClinGen CA217208
- cosmic curated COSV10958
- ClinVar RCV000017550
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.81
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (not provided; 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)