R19H (p.Arg19His) variant of GRIN1 (Q05586)
R19H (p.Arg19His) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- gnomAD 9-137139542-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.48
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available