R52P (p.Arg52Pro) variant of GRIN1 (Q05586)
R52P (p.Arg52Pro) in GRIN1 (Q05586) is a missense change. 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.
R52P (p.Arg52Pro) variant details
- p.Arg52Pro
- rs1045827866
- gnomAD 9-137139641-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.62
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available