C231R (p.Cys231Arg) variant of GRIN2A (Q12879)
C231R (p.Cys231Arg) 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 0.81 / 1. The record also includes published literature and structural context.
C231R (p.Cys231Arg) variant details
- p.Cys231Arg
- rs2141631426
- ClinGen CA394798709
- ClinVar RCV001785396
- Ensembl rs2141631426
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Likely pathogenic (in FESD)
- UniProt: Likely pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)