A288D (p.Ala288Asp) variant of GLA (Alpha-galactosidase A)
A288D (p.Ala288Asp) 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 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.
A288D (p.Ala288Asp) variant details
- p.Ala288Asp
- rs869312437
- ClinGen CA352808
- ClinVar RCV003509072
- UniProt VAR 000477
- Conflicting interpretations
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.97
- MetaLR 1.00
- MetaSVM 0.87
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- Structural context available
- Cited in: Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional… (PMID 7531540)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)