A716D (p.Ala716Asp) variant of GRIN2A (Q12879)
A716D (p.Ala716Asp) 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 0.33 / 1. The record also includes published literature and structural context.
A716D (p.Ala716Asp) variant details
- p.Ala716Asp
- rs1057519552
- ClinGen CA16044331
- ClinVar RCV000416976
- UniProt VAR 078110
- Conflicting interpretations
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.68
- MetaLR 0.16
- MetaSVM -0.98
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.11
- 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: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental… (PMID 20890276)