F113L (p.Phe113Leu) variant of GLA (Alpha-galactosidase A)
F113L (p.Phe113Leu) 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 not provided; Cardiovascular phenotype; 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.
F113L (p.Phe113Leu) variant details
- p.Phe113Leu
- rs869312142
- ClinGen CA352519
- ClinVar RCV000991314
- ClinVar RCV001636724
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. (PMID 31200018)
- Cited in: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)