G56S (p.Gly56Ser) variant of GRIN2A (Q12879)
G56S (p.Gly56Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The record also includes published literature and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs2544032000
- ClinGen CA394715593
- ClinVar RCV002942018
- Likely benign
- Landau-Kleffner syndrome
- Missense
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)