K86E (p.Lys86Glu) variant of GFAP (Glial fibrillary acidic protein)
K86E (p.Lys86Glu) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature.
K86E (p.Lys86Glu) variant details
- p.Lys86Glu
- rs797044573
- ClinGen CA347190
- ClinVar RCV000192115
- UniProt VAR 071534
- not provided
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.93
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.87
- SIFT 0.01
- EVE 0.70
- ClinVar: not provided (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: GFAP mutations, age at onset, and clinical subtypes in Alexander disease. (PMID 21917775)
- Cited in: Alexander Disease. (PMID 20301351)