S398F (p.Ser398Phe) variant of GFAP (Glial fibrillary acidic protein)
S398F (p.Ser398Phe) 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 0.69 / 1. The record also includes published literature.
S398F (p.Ser398Phe) variant details
- p.Ser398Phe
- rs267607508
- ClinGen CA347233
- ClinVar RCV000192183
- Ensembl rs267607508
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.17
- MetaLR 0.87
- MetaSVM 0.79
- PolyPhen-2 0.86
- MutPred 0.79
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)