E413G (p.Glu413Gly) variant of GRIN2B (Q13224)
E413G (p.Glu413Gly) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Intellectual disability, autosomal dominant 6; Developmental and epileptic encep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
E413G (p.Glu413Gly) variant details
- p.Glu413Gly
- rs527236034
- Pathogenic
- Intellectual disability, autosomal dominant 6; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 1.00
- MetaLR 0.08
- MetaSVM -1.05
- PolyPhen-2 1.00
- EVE 0.65
- MutPred 0.51
- ClinVar: Pathogenic (Intellectual disability, autosomal dominant 6; Developmental and)
- UniProt: Pathogenic (in MRD6)
- Cited in: Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic… (PMID 24863970)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)