N34D (p.Asn34Asp) variant of GLA (Alpha-galactosidase A)
N34D (p.Asn34Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- rs1555987150
- ClinGen CA413937393
- ClinVar RCV000593782
- ClinVar RCV005645108
- Conflicting interpretations
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.40
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fabry disease)
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely pathogenic (in FABRYD)
- 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)