D61N (p.Asp61Asn) variant of GLA (Alpha-galactosidase A)
D61N (p.Asp61Asn) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- rs1928578650
- ClinGen CA413936694
- ClinVar RCV001176589
- Ensembl rs1928578650
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.36
- AlphaMissense 0.07
- MetaLR 0.99
- MetaSVM 1.57
- CADD 17.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- 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)