Y366H (p.Tyr366His) variant of GFAP (Glial fibrillary acidic protein)
Y366H (p.Tyr366His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y366H (p.Tyr366His) variant details
- p.Tyr366His
- rs58008462
- ClinGen CA217111
- ClinVar RCV000056828
- ClinVar RCV000192167
- Pathogenic
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Alexander disease; not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)
- Cited in: Alexander Disease. (PMID 20301351)