R79P (p.Arg79Pro) variant of GFAP (Glial fibrillary acidic protein)
R79P (p.Arg79Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
R79P (p.Arg79Pro) variant details
- p.Arg79Pro
- rs59285727
- ClinGen CA217168
- ClinVar RCV000056870
- ClinVar RCV000192111
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (PMID 17894839)
- Cited in: Alexander Disease. (PMID 20301351)