K63Q (p.Lys63Gln) variant of GFAP (Glial fibrillary acidic protein)
K63Q (p.Lys63Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
K63Q (p.Lys63Gln) variant details
- p.Lys63Gln
- rs60095124
- ClinGen CA217150
- ClinVar RCV000056854
- ClinVar RCV000192096
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.19
- MetaLR 0.35
- MetaSVM -0.59
- PolyPhen-2 0.37
- SIFT 0.02
- EVE 0.25
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)
- Cited in: Alexander Disease. (PMID 20301351)