E48* (p.Glu48Ter) variant of GRIN2A (Q12879)
E48* (p.Glu48Ter) in GRIN2A (Q12879) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- Ensembl rs1555491526
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available