A647G (p.Ala647Gly) variant of GRIN2A (Q12879)
A647G (p.Ala647Gly) 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 0.78 / 1. The record also includes published literature and structural context.
A647G (p.Ala647Gly) variant details
- p.Ala647Gly
- rs2141312356
- ClinGen CA394799326
- ClinVar RCV002295142
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)