W55C (p.Trp55Cys) variant of GRIN2A (Q12879)
W55C (p.Trp55Cys) in GRIN2A (Q12879) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W55C (p.Trp55Cys) variant details
- p.Trp55Cys
- Ensembl rs1057521810
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available