L611M (p.Leu611Met) variant of GRIN2A (Q12879)
L611M (p.Leu611Met) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
L611M (p.Leu611Met) variant details
- p.Leu611Met
- rs2141312814
- ClinGen CA394799744
- ClinVar RCV001960520
- Ensembl rs2141312814
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.80
- MetaLR 0.21
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.17
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)