R682C (p.Arg682Cys) variant of GRIN2B (Q13224)
R682C (p.Arg682Cys) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely 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 0.49 / 1. The record also includes published literature.
R682C (p.Arg682Cys) variant details
- p.Arg682Cys
- rs387906636
- Pathogenic/Likely pathogenic
- Intellectual disability, autosomal dominant 6; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.97
- MetaLR 0.24
- MetaSVM -0.66
- PolyPhen-2 1.00
- EVE 0.77
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability, autosomal dominant 6; Developmental and)
- UniProt: Likely pathogenic (in MRD6)
- Cited in: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental… (PMID 20890276)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)