R540H (p.Arg540His) variant of GRIN2B (Q13224)
R540H (p.Arg540His) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 27; Intelle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
R540H (p.Arg540His) variant details
- p.Arg540His
- rs672601378
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 27; Intelle
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- MetaLR 0.25
- MetaSVM -0.60
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Developmental and epileptic encephalopa)
- UniProt: Likely pathogenic (in DEE27)
- Population evidence available
- Cited in: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. (PMID 24272827)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)