R49C (p.Arg49Cys) variant of GRIN2A (Q12879)
R49C (p.Arg49Cys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- cosmic curated COSV58021
- gnomAD rs1413736970
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.62
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available