E58Q (p.Glu58Gln) variant of GRIN2A (Q12879)
E58Q (p.Glu58Gln) in GRIN2A (Q12879) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- ESP rs143833346
- ExAC rs143833346
- TOPMed rs143833346
- gnomAD rs143833346
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available