F18S (p.Phe18Ser) variant of GLA (Alpha-galactosidase A)
F18S (p.Phe18Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- rs2147487622
- ClinGen CA413937712
- ClinVar RCV001794976
- ClinVar RCV005645305
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.13
- MetaLR 0.99
- MetaSVM 2.26
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.81
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)