R239H (p.Arg239His) variant of GFAP (Glial fibrillary acidic protein)
R239H (p.Arg239His) 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 Spastic paraplegia, intellectual disability, nystagmus, and obesity; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
R239H (p.Arg239His) variant details
- p.Arg239His
- rs59565950
- ClinGen CA217209
- NCI-TCGA Cosmic COSV5365
- cosmic curated COSV53652
- Pathogenic
- Spastic paraplegia, intellectual disability, nystagmus, and obesity; not provide
- 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 (Spastic paraplegia, intellectual disability, nystagmus, and obes)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)
- Cited in: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID 11567214)