N5D (p.Asn5Asp) variant of GLA (Alpha-galactosidase A)
N5D (p.Asn5Asp) 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 Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N5D (p.Asn5Asp) variant details
- p.Asn5Asp
- rs782442966
- ClinGen CA030007
- ClinVar RCV001190922
- ClinVar RCV005841531
- Conflicting interpretations
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- MetaLR 0.98
- MetaSVM 2.28
- CADD 5.55
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Fabry disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)