A268D (p.Ala268Asp) variant of GFAP (Glial fibrillary acidic protein)
A268D (p.Ala268Asp) 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 0.90 / 1. The record also includes published literature and structural context.
A268D (p.Ala268Asp) variant details
- p.Ala268Asp
- rs797044582
- ClinGen CA347210
- ClinVar RCV000192148
- Ensembl rs797044582
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)