C461F (p.Cys461Phe) variant of GRIN2B (Q13224)
C461F (p.Cys461Phe) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature.
C461F (p.Cys461Phe) variant details
- p.Cys461Phe
- rs1949427787
- Pathogenic/Likely pathogenic
- Intellectual disability, autosomal dominant 6; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 1.00
- MetaLR 0.26
- MetaSVM -0.46
- PolyPhen-2 1.00
- EVE 0.82
- MutPred 0.87
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability, autosomal dominant 6; Inborn genetic di)
- UniProt: Likely pathogenic (in MRD6)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)