D83N (p.Asp83Asn) variant of GLA (Alpha-galactosidase A)
D83N (p.Asp83Asn) 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; Charcot-Marie-Tooth disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- rs782722577
- ClinGen CA030449
- ClinVar RCV000471970
- ClinVar RCV000596614
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.64
- MetaLR 1.00
- MetaSVM 0.87
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease; Cardiovascular phenot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)