T513I (p.Thr513Ile) variant of GRIN2A (Q12879)
T513I (p.Thr513Ile) 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 0.59 / 1. The record also includes published literature and structural context.
T513I (p.Thr513Ile) variant details
- p.Thr513Ile
- rs1064796950
- ClinGen CA16620325
- ClinVar RCV000486634
- ClinVar RCV001851273
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)