W81S (p.Trp81Ser) variant of GLA (Alpha-galactosidase A)
W81S (p.Trp81Ser) 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 0.94 / 1. The record also includes published literature and structural context.
W81S (p.Trp81Ser) variant details
- p.Trp81Ser
- rs398123208
- ClinGen CA413934061
- ClinVar RCV001328356
- Ensembl rs398123208
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (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)