R70W (p.Arg70Trp) variant of GFAP (Glial fibrillary acidic protein)
R70W (p.Arg70Trp) 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 0.76 / 1. The record also includes published literature and structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs60343255
- ClinGen CA217151
- cosmic curated COSV53653
- ClinVar RCV000056855
- Pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.81
- MetaLR 0.79
- MetaSVM 0.65
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (PMID 17894839)
- Cited in: Alexander Disease. (PMID 20301351)