T531M (p.Thr531Met) variant of GRIN2A (Q12879)
T531M (p.Thr531Met) 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; not provided; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
T531M (p.Thr531Met) variant details
- p.Thr531Met
- rs397518468
- ClinGen CA145316
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58031
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided; Seizure)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A mutations cause epilepsy-aphasia spectrum disorders. (PMID 23933818)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)