E362G (p.Glu362Gly) variant of GFAP (Glial fibrillary acidic protein)
E362G (p.Glu362Gly) 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 0.95 / 1. The record also includes published literature.
E362G (p.Glu362Gly) variant details
- p.Glu362Gly
- rs797044588
- ClinGen CA347224
- ClinVar RCV000192163
- Ensembl rs797044588
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)