K236E (p.Lys236Glu) variant of GFAP (Glial fibrillary acidic protein)
K236E (p.Lys236Glu) 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 0.44 / 1. The record also includes published literature and structural context.
K236E (p.Lys236Glu) variant details
- p.Lys236Glu
- rs2145637388
- ClinGen CA399845737
- ClinVar RCV001725869
- Ensembl rs2145637388
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.30
- MetaLR 0.47
- MetaSVM -0.44
- PolyPhen-2 0.02
- SIFT 0.00
- EVE 0.26
- 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)