D25N (p.Asp25Asn) variant of GLA (Alpha-galactosidase A)
D25N (p.Asp25Asn) 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 Hypertrophic cardiomyopathy 1; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- rs781788693
- ClinGen CA031966
- ClinVar RCV001183525
- ClinVar RCV001256948
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.08
- MetaLR 0.98
- MetaSVM 2.18
- PolyPhen-2 0.05
- SIFT 0.59
- MutPred 0.52
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)