D33G (p.Asp33Gly) variant of GLA (Alpha-galactosidase A)
D33G (p.Asp33Gly) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- rs869312136
- ClinGen CA353071
- ClinVar RCV000208990
- ClinVar RCV000209255
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.16
- MetaLR 1.00
- MetaSVM 0.77
- PolyPhen-2 0.64
- SIFT 0.00
- EVE 0.43
- ClinVar: 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)