R518L (p.Arg518Leu) variant of GRIN2A (Q12879)
R518L (p.Arg518Leu) 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 0.73 / 1. The record also includes published literature and structural context.
R518L (p.Arg518Leu) variant details
- p.Arg518Leu
- rs397518470
- ClinGen CA394800382
- NCI-TCGA Cosmic COSV5802
- NCI-TCGA Cosmic COSV5805
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)