E72K (p.Glu72Lys) variant of GFAP (Glial fibrillary acidic protein)
E72K (p.Glu72Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of Alexander disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- rs267607523
- ClinGen CA217155
- cosmic curated COSV53653
- ClinVar RCV000056858
- not provided
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.63
- MetaLR 0.82
- MetaSVM 0.76
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.61
- ClinVar: not provided (Alexander disease; not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: GFAP mutations, age at onset, and clinical subtypes in Alexander disease. (PMID 21917775)
- Cited in: Alexander Disease. (PMID 20301351)