N224D (p.Asn224Asp) variant of GLA (Alpha-galactosidase A)
N224D (p.Asn224Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N224D (p.Asn224Asp) variant details
- p.Asn224Asp
- rs1555985175
- ClinGen CA413924981
- ClinVar RCV000594508
- ClinVar RCV005645110
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.74
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of… (PMID 10208848)
- Cited in: Mutation analysis in 11 French patients with Fabry disease. (PMID 9452111)