D78N (p.Asp78Asn) variant of GFAP (Glial fibrillary acidic protein)
D78N (p.Asp78Asn) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- rs797044571
- ClinGen CA347187
- ClinVar RCV000192108
- UniProt VAR 071529
- not provided
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.48
- MetaLR 0.76
- MetaSVM 0.35
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.22
- ClinVar: not provided (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with… (PMID 23743246)
- Cited in: Alexander Disease. (PMID 20301351)