I219T (p.Ile219Thr) variant of GLA (Alpha-galactosidase A)
I219T (p.Ile219Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
I219T (p.Ile219Thr) variant details
- p.Ile219Thr
- rs2147473404
- ClinGen CA413925068
- ClinVar RCV001789804
- UniProt VAR 062560
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.71
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A… (PMID 19621417)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)