D78E (p.Asp78Glu) variant of GFAP (Glial fibrillary acidic protein)
D78E (p.Asp78Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
D78E (p.Asp78Glu) variant details
- p.Asp78Glu
- rs121909720
- ClinGen CA341388
- ClinVar RCV000017562
- ClinVar RCV003556033
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial… (PMID 12975300)
- Cited in: Alexander Disease. (PMID 20301351)