R696H (p.Arg696His) variant of GRIN2B (Q13224)
R696H (p.Arg696His) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Intellectual disability, autosomal dominant 6; Developm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
R696H (p.Arg696His) variant details
- p.Arg696His
- rs1555103971
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Intellectual disability, autosomal dominant 6; Developm
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- MetaLR 0.21
- MetaSVM -0.76
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Intellectual disability, autosomal domi)
- UniProt: Likely pathogenic (in MRD6)
- Population evidence available
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)