R52L (p.Arg52Leu) variant of GRIN2A (Q12879)
R52L (p.Arg52Leu) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R52L (p.Arg52Leu) variant details
- p.Arg52Leu
- cosmic curated COSV58030
- gnomAD rs1596587259
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available