N224S (p.Asn224Ser) variant of GLA (Alpha-galactosidase A)
N224S (p.Asn224Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
N224S (p.Asn224Ser) variant details
- p.Asn224Ser
- rs869312383
- ClinGen CA352926
- ClinVar RCV001293630
- ClinVar RCV001781621
- Pathogenic/Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.70
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)