L76F (p.Leu76Phe) variant of GFAP (Glial fibrillary acidic protein)
L76F (p.Leu76Phe) 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 0.95 / 1. The record also includes published literature.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- rs57120761
- ClinGen CA217160
- ClinVar RCV000017557
- ClinVar RCV000056863
- Pathogenic
- not provided
- 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: Pathogenic (not provided)
- 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: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)