I654T (p.Ile654Thr) variant of GRIN2A (Q12879)
I654T (p.Ile654Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I654T (p.Ile654Thr) variant details
- p.Ile654Thr
- rs2042447540
- ClinGen CA394799240
- ClinVar RCV001211099
- ClinVar RCV001576146
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; 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: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)