T684A (p.Thr684Ala) variant of GRIN2A (Q12879)
T684A (p.Thr684Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
T684A (p.Thr684Ala) variant details
- p.Thr684Ala
- rs796052547
- ClinGen CA314943
- ClinVar RCV000187640
- ClinVar RCV001781549
- Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.99
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)