A647S (p.Ala647Ser) variant of GRIN2A (Q12879)
A647S (p.Ala647Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A647S (p.Ala647Ser) variant details
- p.Ala647Ser
- rs2042447850
- ClinGen CA394799332
- ClinVar RCV001089991
- Ensembl rs2042447850
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)