E223Q (p.Glu223Gln) variant of GFAP (Glial fibrillary acidic protein)
E223Q (p.Glu223Gln) 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 0.77 / 1. The record also includes population frequency data and published literature.
E223Q (p.Glu223Gln) variant details
- p.Glu223Gln
- rs56679084
- ClinGen CA217204
- ClinVar RCV000056895
- ClinVar RCV000192110
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.40
- PolyPhen-2 0.73
- SIFT 0.05
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in dbSNP:rs56679084)
- UniProt: Pathogenic (in dbSNP:rs56679084)
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? (PMID 12944715)
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)