V46E (p.Val46Glu) variant of GRIN2A (Q12879)
V46E (p.Val46Glu) 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 0.44 / 1. The record also includes published literature and structural context.
V46E (p.Val46Glu) variant details
- p.Val46Glu
- rs2050238313
- ClinGen CA394715651
- ClinVar RCV001211384
- Ensembl rs2050238313
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.24
- MetaLR 0.42
- MetaSVM -0.42
- PolyPhen-2 0.14
- SIFT 0.02
- MutPred 0.51
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)