D731N (p.Asp731Asn) variant of GRIN2A (Q12879)
D731N (p.Asp731Asn) 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; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D731N (p.Asp731Asn) variant details
- p.Asp731Asn
- rs796052549
- ClinGen CA314948
- NCI-TCGA Cosmic COSV5804
- cosmic curated COSV58045
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.47
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.29
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided; Seizure)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Population evidence available
- 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)