I91T (p.Ile91Thr) variant of GLA (Alpha-galactosidase A)
I91T (p.Ile91Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLA-related disorder; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I91T (p.Ile91Thr) variant details
- p.Ile91Thr
- rs869312141
- ClinGen CA352928
- ClinVar RCV000732724
- ClinVar RCV001388247
- Pathogenic
- GLA-related disorder; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (GLA-related disorder; not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)