V87G (p.Val87Gly) variant of GFAP (Glial fibrillary acidic protein)
V87G (p.Val87Gly) 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 0.86 / 1. The record also includes published literature.
V87G (p.Val87Gly) variant details
- p.Val87Gly
- rs60449251
- ClinGen CA217180
- ClinVar RCV000056877
- ClinVar RCV000192119
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.78
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.91
- ClinVar: not provided (not provided; Alexander disease)
- UniProt: Not provided
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)