R5H (p.Arg5His) variant of GRIN1 (Q05586)
R5H (p.Arg5His) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs779872478
- gnomAD 9-137139500-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.47
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available