M817T (p.Met817Thr) variant of GRIN2A (Q12879)
M817T (p.Met817Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M817T (p.Met817Thr) variant details
- p.Met817Thr
- rs1064796608
- ClinGen CA394710109
- ClinVar RCV000989525
- Ensembl rs1064796608
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.43
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)