G688A (p.Gly688Ala) variant of GRIN2A (Q12879)
G688A (p.Gly688Ala) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G688A (p.Gly688Ala) variant details
- p.Gly688Ala
- rs2141294973
- ClinGen CA394797891
- ClinVar RCV001785405
- Ensembl rs2141294973
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.47
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)