G513E (p.Gly513Glu) variant of GRIA1 (Glutamate receptor 1)
G513E (p.Gly513Glu) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder, autosomal dominant 67. The record also includes structural context.
G513E (p.Gly513Glu) variant details
- p.Gly513Glu
- rs1435095170
- ClinGen CA361908051
- ClinVar RCV003226589
- TOPMed rs1435095170
- Likely pathogenic
- Intellectual developmental disorder, autosomal dominant 67
- Missense
- ClinVar: Likely pathogenic (Intellectual developmental disorder, autosomal dominant 67)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available