S644G (p.Ser644Gly) variant of GRIN2A (Q12879)
S644G (p.Ser644Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
S644G (p.Ser644Gly) variant details
- p.Ser644Gly
- rs1555492763
- ClinGen CA314937
- ClinVar RCV001785401
- Ensembl rs1555492763
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.98
- MetaLR 0.46
- MetaSVM 0.09
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.72
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- 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: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)