I84M (p.Ile84Met) variant of GFAP (Glial fibrillary acidic protein)
I84M (p.Ile84Met) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alexander disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
I84M (p.Ile84Met) variant details
- p.Ile84Met
- rs571151302
- ClinGen CA399848618
- ClinVar RCV000498900
- ClinVar RCV002051858
- Likely pathogenic
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.79
- MetaLR 0.82
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Alexander disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)