N53S (p.Asn53Ser) variant of GLA (Alpha-galactosidase A)
N53S (p.Asn53Ser) 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 0.66 / 1. The record also includes published literature and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs1928580573
- ClinGen CA413936862
- ClinVar RCV001338831
- Ensembl rs1928580573
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.08
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.65
- SIFT 0.24
- EVE 0.36
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)