R49S (p.Arg49Ser) variant of GRIN2A (Q12879)
R49S (p.Arg49Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- rs1413736970
- ClinGen CA394715634
- cosmic curated COSV58032
- ClinVar RCV000802443
- Likely benign
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.60
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.79
- ClinVar: Likely benign (Landau-Kleffner syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00015)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)