G80A (p.Gly80Ala) variant of GLA (Alpha-galactosidase A)
G80A (p.Gly80Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G80A (p.Gly80Ala) variant details
- p.Gly80Ala
- rs781838005
- ClinGen CA413934107
- ClinVar RCV001563581
- 1000Genomes rs781838005
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.85
- CADD 24.90
- SIFT 0.00
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Likely benign (in FABRYD)
- UniProt: Likely benign (in FABRYD)
- Most common in the East Asian population (allele frequency 0.00028)
- 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)