N53Y (p.Asn53Tyr) variant of GLA (Alpha-galactosidase A)
N53Y (p.Asn53Tyr) 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.
N53Y (p.Asn53Tyr) variant details
- p.Asn53Tyr
- NCI-TCGA Cosmic COSV5451
- Uncertain significance
- Fabry disease
- Missense
- ClinVar: Uncertain significance (Fabry disease)
- UniProt: Uncertain significance
- Structural context available