L649P (p.Leu649Pro) variant of GRIN2A (Q12879)
L649P (p.Leu649Pro) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner syndrome. The record also includes published literature and structural context.
L649P (p.Leu649Pro) variant details
- p.Leu649Pro
- rs2506111442
- ClinGen CA915949121
- ClinVar RCV001004664
- UniProt VAR 089609
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)