C456Y (p.Cys456Tyr) variant of GRIN2B (Q13224)
C456Y (p.Cys456Tyr) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Intellectual disability, autosomal dominant 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature.
C456Y (p.Cys456Tyr) variant details
- p.Cys456Tyr
- rs397514555
- Likely pathogenic
- Intellectual disability, autosomal dominant 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.15
- PolyPhen-2 1.00
- EVE 0.90
- MutPred 0.19
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 6)
- UniProt: Likely pathogenic (in MRD6)
- Cited in: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (PMID 23160955)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)