A818T (p.Ala818Thr) variant of GRIN2A (Q12879)
A818T (p.Ala818Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
A818T (p.Ala818Thr) variant details
- p.Ala818Thr
- rs1555483699
- ClinGen CA394710105
- cosmic curated COSV58056
- ClinVar RCV000626032
- Conflicting interpretations
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Conflicting classifications of pathogenicity (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance (in FESD)
- UniProt: Uncertain significance (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)