C436R (p.Cys436Arg) variant of GRIN2B (Q13224)
C436R (p.Cys436Arg) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Intellectual disability, autosomal dominant 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
C436R (p.Cys436Arg) variant details
- p.Cys436Arg
- rs1565478152
- Conflicting interpretations
- Intellectual disability, autosomal dominant 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 1.00
- MetaLR 0.15
- MetaSVM -0.78
- PolyPhen-2 1.00
- EVE 0.86
- MutPred 0.60
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 6)
- UniProt: Conflicting interpretations (in MRD6)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)