A727T (p.Ala727Thr) variant of GRIN2A (Q12879)
A727T (p.Ala727Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A727T (p.Ala727Thr) variant details
- p.Ala727Thr
- rs1555488144
- ClinGen CA394797328
- NCI-TCGA Cosmic COSV5802
- NCI-TCGA Cosmic COSV5805
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.53
- MetaLR 0.38
- MetaSVM -0.03
- CADD 25.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (PMID 23933819)
- Cited in: Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. (PMID 27839871)