I694T (p.Ile694Thr) variant of GRIN2A (Q12879)
I694T (p.Ile694Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
I694T (p.Ile694Thr) variant details
- p.Ile694Thr
- rs2141294911
- ClinGen CA394797848
- ClinVar RCV001785406
- Ensembl rs2141294911
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/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: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)