G543R (p.Gly543Arg) variant of GRIN2B (Q13224)
G543R (p.Gly543Arg) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.45 / 1. The record also includes published literature and structural context.
G543R (p.Gly543Arg) variant details
- p.Gly543Arg
- rs1949419811
- ClinGen CA384051723
- ClinVar RCV003032709
- ClinGen CA384051725
- Likely pathogenic
- Intellectual disability, autosomal dominant 6; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.58
- PolyPhen-2 0.99
- EVE 0.56
- MutPred 0.38
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 6; Developmental and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN2B-Related Neurodevelopmental Disorder. (PMID 29851452)