A81D (p.Ala81Asp) variant of GFAP (Glial fibrillary acidic protein)
A81D (p.Ala81Asp) 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 0.92 / 1. The record also includes published literature.
A81D (p.Ala81Asp) variant details
- p.Ala81Asp
- rs1597864461
- ClinGen CA399848662
- ClinVar RCV000789012
- Ensembl rs1597864461
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.83
- 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)