R88S (p.Arg88Ser) variant of GFAP (Glial fibrillary acidic protein)
R88S (p.Arg88Ser) 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 Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- rs61622935
- ClinGen CA217182
- ClinVar RCV000017556
- ClinVar RCV000056878
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.71
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID 11567214)
- Cited in: Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (PMID 23364391)