R52G (p.Arg52Gly) variant of GRIN1 (Q05586)
R52G (p.Arg52Gly) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- rs950054021
- gnomAD 9-137139640-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- CADD 21.30
- PolyPhen-2 0.44
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available