G80D (p.Gly80Asp) variant of GLA (Alpha-galactosidase A)
G80D (p.Gly80Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- rs781838005
- ClinGen CA089420
- ClinVar RCV000209421
- ClinVar RCV000209815
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.86
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Fabry disease)
- EBI: Likely benign (in FABRYD)
- UniProt: Likely benign (in FABRYD)
- Most common in the 1KG:PEL population (allele frequency 0.0078)
- 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)