R88C (p.Arg88Cys) variant of GFAP (Glial fibrillary acidic protein)
R88C (p.Arg88Cys) 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 0.83 / 1. The record also includes population frequency data and published literature.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- rs61622935
- ClinGen CA217183
- NCI-TCGA Cosmic COSV5365
- cosmic curated COSV53650
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.71
- MetaLR 0.91
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- 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 1.8e-06)
- Cited in: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID 11567214)
- Cited in: Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. (PMID 12034785)