C436R (p.Cys436Arg) variant of GRIN2A (Q12879)
C436R (p.Cys436Arg) 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 0.41 / 1. The record also includes published literature and structural context.
C436R (p.Cys436Arg) variant details
- p.Cys436Arg
- rs1555496111
- ClinGen CA394800960
- ClinVar RCV000656048
- ClinVar RCV001091975
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 1.00
- MetaLR 0.14
- MetaSVM -0.82
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (PMID 23933819)
- Cited in: Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations. (PMID 27288002)