N53K (p.Asn53Lys) variant of GLA (Alpha-galactosidase A)
N53K (p.Asn53Lys) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Fabry disease. The record also includes structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- Ensembl rs869312257
- Uncertain significance
- Fabry disease
- Missense
- ClinVar: Uncertain significance (Fabry disease)
- UniProt: Uncertain significance
- Structural context available