F80S (p.Phe80Ser) variant of GFAP (Glial fibrillary acidic protein)
F80S (p.Phe80Ser) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
F80S (p.Phe80Ser) variant details
- p.Phe80Ser
- rs797044572
- ClinGen CA347188
- ClinVar RCV000192113
- Ensembl rs797044572
- not provided
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.86
- ClinVar: not provided (Alexander disease)
- UniProt: Not provided
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)