S809R (p.Ser809Arg) variant of GRIN2A (Q12879)
S809R (p.Ser809Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S809R (p.Ser809Arg) variant details
- p.Ser809Arg
- rs1064795647
- ClinGen CA16620323
- cosmic curated COSV58030
- ClinVar RCV000479794
- Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. (PMID 38307912)