W81* (p.Trp81Ter) variant of GLA (Alpha-galactosidase A)
W81* (p.Trp81Ter) in GLA (Alpha-galactosidase A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
W81* (p.Trp81Ter) variant details
- p.Trp81Ter
- rs398123208
- ClinGen CA021611
- ClinVar RCV000157886
- ClinVar RCV001807017
- Pathogenic
- Stop Gained
- 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
- 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)