M74T (p.Met74Thr) variant of GFAP (Glial fibrillary acidic protein)
M74T (p.Met74Thr) 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 0.47 / 1. The record also includes published literature and structural context.
M74T (p.Met74Thr) variant details
- p.Met74Thr
- rs267607504
- ClinGen CA217158
- ClinVar RCV000056861
- ClinVar RCV000192102
- not provided
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.78
- MetaLR 0.60
- MetaSVM 0.12
- PolyPhen-2 0.04
- SIFT 0.00
- EVE 0.21
- ClinVar: not provided (not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. (PMID 17934883)
- Cited in: Alexander Disease. (PMID 20301351)