N77Y (p.Asn77Tyr) variant of GFAP (Glial fibrillary acidic protein)
N77Y (p.Asn77Tyr) 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 0.96 / 1. The record also includes published literature.
N77Y (p.Asn77Tyr) variant details
- p.Asn77Tyr
- rs58732244
- ClinGen CA217161
- ClinVar RCV000017558
- ClinVar RCV000056864
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID 11567214)
- Cited in: Alexander Disease. (PMID 20301351)