A548T (p.Ala548Thr) variant of GRIN2A (Q12879)
A548T (p.Ala548Thr) 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 0.49 / 1. The record also includes published literature and structural context.
A548T (p.Ala548Thr) variant details
- p.Ala548Thr
- rs1057523843
- ClinGen CA394800191
- ClinVar RCV001785399
- Ensembl rs1057523843
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.43
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech… (PMID 23933820)
- Cited in: Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue… (PMID 28095420)