D93N (p.Asp93Asn) variant of GLA (Alpha-galactosidase A)
D93N (p.Asp93Asn) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D93N (p.Asp93Asn) variant details
- p.Asp93Asn
- rs869312270
- ClinGen CA352482
- ClinVar RCV001220686
- UniProt VAR 062554
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.77
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)
- Cited in: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A… (PMID 19621417)