I317T (p.Ile317Thr) variant of GLA (Alpha-galactosidase A)
I317T (p.Ile317Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I317T (p.Ile317Thr) variant details
- p.Ile317Thr
- rs869312158
- ClinGen CA16020707
- ClinVar RCV001047256
- ClinVar RCV004994203
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)