R79L (p.Arg79Leu) variant of GFAP (Glial fibrillary acidic protein)
R79L (p.Arg79Leu) 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 0.94 / 1. The record also includes published literature.
R79L (p.Arg79Leu) variant details
- p.Arg79Leu
- rs59285727
- ClinGen CA217169
- ClinVar RCV000056871
- ClinVar RCV000192112
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. (PMID 12581808)
- Cited in: Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (PMID 23364391)