D264N (p.Asp264Asn) variant of GLA (Alpha-galactosidase A)
D264N (p.Asp264Asn) 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.
D264N (p.Asp264Asn) variant details
- p.Asp264Asn
- rs190347120
- ClinGen CA413923869
- ClinVar RCV003069448
- gnomAD rs190347120
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- AlphaMissense 0.80
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- 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)