R52Q (p.Arg52Gln) variant of GRIN2A (Q12879)
R52Q (p.Arg52Gln) in GRIN2A (Q12879) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58033
- gnomAD rs1596587259
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.71
- CADD 24.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available