R330G (p.Arg330Gly) variant of GFAP (Glial fibrillary acidic protein)
R330G (p.Arg330Gly) 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 0.52 / 1. The record also includes published literature.
R330G (p.Arg330Gly) variant details
- p.Arg330Gly
- rs267607513
- ClinGen CA217233
- ClinVar RCV000056917
- ClinVar RCV000192152
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.15
- MetaLR 0.65
- MetaSVM 0.16
- PolyPhen-2 0.62
- SIFT 0.01
- EVE 0.30
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Adult-onset Alexander disease : report on a family. (PMID 18004641)
- Cited in: Alexander Disease. (PMID 20301351)