W55* (p.Trp55Ter) variant of GRIN2A (Q12879)
W55* (p.Trp55Ter) in GRIN2A (Q12879) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W55* (p.Trp55Ter) variant details
- p.Trp55Ter
- Ensembl rs1555491514
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available