I363V (p.Ile363Val) variant of GFAP (Glial fibrillary acidic protein)
I363V (p.Ile363Val) 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 0.93 / 1. The record also includes published literature and structural context.
I363V (p.Ile363Val) variant details
- p.Ile363Val
- rs2145632673
- ClinGen CA399843481
- ClinVar RCV002250013
- Ensembl rs2145632673
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.90
- 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)