E362D (p.Glu362Asp) variant of GFAP (Glial fibrillary acidic protein)
E362D (p.Glu362Asp) 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 0.96 / 1. The record also includes published literature.
E362D (p.Glu362Asp) variant details
- p.Glu362Asp
- rs121909718
- ClinGen CA217107
- ClinVar RCV000017559
- ClinVar RCV000056825
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. (PMID 12034796)
- Cited in: Alexander Disease. (PMID 20301351)