M73V (p.Met73Val) variant of GFAP (Glial fibrillary acidic protein)
M73V (p.Met73Val) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
M73V (p.Met73Val) variant details
- p.Met73Val
- rs2145642617
- ClinGen CA399848761
- ClinVar RCV001527383
- Ensembl rs2145642617
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.89
- MetaLR 0.67
- MetaSVM 0.34
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: 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)