A548V (p.Ala548Val) variant of GRIN2A (Q12879)
A548V (p.Ala548Val) 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 0.49 / 1. The record also includes published literature and structural context.
A548V (p.Ala548Val) variant details
- p.Ala548Val
- rs2042657887
- ClinVar RCV004556934
- Ensembl rs2042657887
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.27
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.78
- 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)