D360V (p.Asp360Val) variant of GFAP (Glial fibrillary acidic protein)
D360V (p.Asp360Val) 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 0.94 / 1. The record also includes published literature and structural context.
D360V (p.Asp360Val) variant details
- p.Asp360Val
- rs62636501
- ClinGen CA217105
- ClinVar RCV000056824
- ClinVar RCV000192162
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)