G183D (p.Gly183Asp) variant of GLA (Alpha-galactosidase A)
G183D (p.Gly183Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G183D (p.Gly183Asp) variant details
- p.Gly183Asp
- rs398123212
- ClinGen CA413928004
- ClinVar RCV000681892
- ClinVar RCV002477519
- Pathogenic/Likely pathogenic
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.81
- AlphaMissense 0.70
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease; not provided)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- Structural context available
- Cited in: Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (PMID 10666480)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)