L352P (p.Leu352Pro) variant of GFAP (Glial fibrillary acidic protein)
L352P (p.Leu352Pro) 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 0.96 / 1. The record also includes published literature.
L352P (p.Leu352Pro) variant details
- p.Leu352Pro
- rs28932769
- ClinGen CA217100
- ClinVar RCV000017561
- ClinVar RCV000056820
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. (PMID 14557587)
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)