R276L (p.Arg276Leu) variant of GFAP (Glial fibrillary acidic protein)
R276L (p.Arg276Leu) 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 0.74 / 1. The record also includes published literature.
R276L (p.Arg276Leu) variant details
- p.Arg276Leu
- rs121909719
- ClinGen CA217223
- ClinVar RCV000017560
- ClinVar RCV000056910
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.35
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. (PMID 12447932)
- Cited in: Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement… (PMID 20359319)