F113S (p.Phe113Ser) variant of GLA (Alpha-galactosidase A)
F113S (p.Phe113Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F113S (p.Phe113Ser) variant details
- p.Phe113Ser
- rs2147480502
- ClinGen CA413933031
- ClinVar RCV001963157
- UniProt VAR 012385
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: 20 novel GLA mutations in 35 families. (PMID 11668641)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)