L36W (p.Leu36Trp) variant of GLA (Alpha-galactosidase A)
L36W (p.Leu36Trp) 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 0.83 / 1. The record also includes published literature and structural context.
L36W (p.Leu36Trp) variant details
- p.Leu36Trp
- rs869312138
- ClinGen CA353241
- ClinVar RCV000209353
- ClinVar RCV000209629
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.39
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)