A20D (p.Ala20Asp) variant of GLA (Alpha-galactosidase A)
A20D (p.Ala20Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- rs869312134
- ClinGen CA353016
- ClinVar RCV000208891
- ClinVar RCV000209573
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.23
- MetaLR 0.99
- MetaSVM 1.91
- PolyPhen-2 0.78
- SIFT 0.09
- MutPred 0.77
- ClinVar: Pathogenic/Likely 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)