T412I (p.Thr412Ile) variant of GFAP (Glial fibrillary acidic protein)
T412I (p.Thr412Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T412I (p.Thr412Ile) variant details
- p.Thr412Ile
- rs1597853099
- ClinGen CA399838855
- ClinVar RCV000989932
- Ensembl rs1597853099
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.09
- CADD 22.50
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)