R504W (p.Arg504Trp) variant of GRIN2A (Q12879)
R504W (p.Arg504Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R504W (p.Arg504Trp) variant details
- p.Arg504Trp
- rs1360906241
- ClinGen CA394800472
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58021
- Pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.38
- MetaLR 0.36
- MetaSVM -0.25
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the African/African-American population (allele frequency 3.2e-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)