R239L (p.Arg239Leu) variant of GFAP (Glial fibrillary acidic protein)
R239L (p.Arg239Leu) 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; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
R239L (p.Arg239Leu) variant details
- p.Arg239Leu
- rs59565950
- ClinGen CA217211
- ClinVar RCV000056901
- ClinVar RCV000192137
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.87
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. (PMID 17043438)
- Cited in: Alexander Disease. (PMID 20301351)