Y83H (p.Tyr83His) variant of GFAP (Glial fibrillary acidic protein)
Y83H (p.Tyr83His) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature.
Y83H (p.Tyr83His) variant details
- p.Tyr83His
- rs267607506
- ClinGen CA217170
- ClinVar RCV000056872
- ClinVar RCV000192114
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Clinical and genetic study in Chinese patients with Alexander disease. (PMID 18079314)
- Cited in: Alexander Disease. (PMID 20301351)