V734L (p.Val734Leu) variant of GRIN2A (Q12879)
V734L (p.Val734Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
V734L (p.Val734Leu) variant details
- p.Val734Leu
- rs1439688451
- ClinGen CA394797281
- ClinVar RCV000656044
- gnomAD rs1439688451
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.99
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (PMID 23933819)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)