V87L (p.Val87Leu) variant of GFAP (Glial fibrillary acidic protein)
V87L (p.Val87Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature.
V87L (p.Val87Leu) variant details
- p.Val87Leu
- rs267607518
- ClinGen CA217178
- ClinVar RCV000056876
- ClinVar RCV000192118
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 0.28
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)