G532E (p.Gly532Glu) variant of GRIN2A (Q12879)
G532E (p.Gly532Glu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
G532E (p.Gly532Glu) variant details
- p.Gly532Glu
- rs1085307961
- ClinGen CA394800295
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58031
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 1.00
- MetaLR 0.49
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Likely pathogenic (in FESD)
- UniProt: Likely pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)