G792E (p.Gly792Glu) variant of GRIA2 (Glutamate receptor 2)
G792E (p.Gly792Glu) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with language impairment and behavioral abnormalitie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
G792E (p.Gly792Glu) variant details
- p.Gly792Glu
- rs2127000875
- ClinGen CA358650532
- NCI-TCGA Cosmic COSV5239
- cosmic curated COSV52396
- Pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.99
- MetaLR 0.42
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- EBI: Pathogenic (in NEDLIB)
- UniProt: Pathogenic (in NEDLIB)
- Structural context available
- Cited in: GRIA2-Related Neurodevelopmental Disorder. (PMID 38224558)