E332K (p.Glu332Lys) variant of GFAP (Glial fibrillary acidic protein)
E332K (p.Glu332Lys) 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 0.68 / 1. The record also includes published literature and structural context.
E332K (p.Glu332Lys) variant details
- p.Glu332Lys
- rs267607514
- ClinGen CA217236
- ClinVar RCV000056919
- ClinVar RCV000192152
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.15
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 0.97
- SIFT 0.03
- EVE 0.49
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Adult-onset Alexander disease : report on a family. (PMID 18004641)
- Cited in: Alexander Disease. (PMID 20301351)