R518H (p.Arg518His) variant of GRIN2A (Q12879)
R518H (p.Arg518His) 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; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R518H (p.Arg518His) variant details
- p.Arg518His
- rs397518470
- ClinGen CA145318
- cosmic curated COSV58023
- ClinVar RCV000074391
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.69
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.52
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided; Epilepsy)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech… (PMID 23933820)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)