M73K (p.Met73Lys) variant of GFAP (Glial fibrillary acidic protein)
M73K (p.Met73Lys) 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 0.83 / 1. The record also includes published literature and structural context.
M73K (p.Met73Lys) variant details
- p.Met73Lys
- rs61060395
- ClinGen CA217156
- ClinVar RCV000056859
- ClinVar RCV000192105
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.54
- SIFT 0.00
- EVE 0.75
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (PMID 17894839)
- Cited in: Alexander Disease. (PMID 20301351)