G556E (p.Gly556Glu) variant of GRIA2 (Glutamate receptor 2)
G556E (p.Gly556Glu) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with language impairment and behavioral abnormalitie. The record also includes published literature and structural context.
G556E (p.Gly556Glu) variant details
- p.Gly556Glu
- rs2530754438
- ClinGen CA358648316
- ClinVar RCV003594707
- Likely pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIA2-Related Neurodevelopmental Disorder. (PMID 38224558)