L76V (p.Leu76Val) variant of GFAP (Glial fibrillary acidic protein)
L76V (p.Leu76Val) 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 0.95 / 1. The record also includes published literature.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- rs57120761
- ClinGen CA217159
- ClinVar RCV000056862
- ClinVar RCV000192106
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)
- Cited in: Alexander Disease. (PMID 20301351)