E72G (p.Glu72Gly) variant of GFAP (Glial fibrillary acidic protein)
E72G (p.Glu72Gly) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E72G (p.Glu72Gly) variant details
- p.Glu72Gly
- rs1057518685
- ClinGen CA16043694
- ClinVar RCV000414950
- Ensembl rs1057518685
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.66
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic (in ALXDRD)
- UniProt: Likely pathogenic (in ALXDRD)
- 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)