L649V (p.Leu649Val) variant of GRIN2A (Q12879)
L649V (p.Leu649Val) 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 0.68 / 1. The record also includes published literature and structural context.
L649V (p.Leu649Val) variant details
- p.Leu649Val
- rs397514557
- ClinGen CA130441
- cosmic curated COSV58055
- ClinVar RCV000032866
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. (PMID 16537520)
- Cited in: Diagnostic exome sequencing in persons with severe intellectual disability. (PMID 23033978)