N615K (p.Asn615Lys) variant of GRIN2A (Q12879)
N615K (p.Asn615Lys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
N615K (p.Asn615Lys) variant details
- p.Asn615Lys
- rs397518447
- ClinGen CA128602
- ClinVar RCV000022585
- UniProt VAR 065899
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 1.00
- MetaLR 0.07
- MetaSVM -1.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental… (PMID 20890276)
- Cited in: Diagnostic exome sequencing in persons with severe intellectual disability. (PMID 23033978)