R258C (p.Arg258Cys) variant of GFAP (Glial fibrillary acidic protein)
R258C (p.Arg258Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R258C (p.Arg258Cys) variant details
- p.Arg258Cys
- rs797044578
- ClinGen CA347204
- cosmic curated COSV53652
- ClinVar RCV000192143
- Pathogenic
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.18
- MetaLR 0.91
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (Alexander disease; not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)