R19S (p.Arg19Ser) variant of GRIN1 (Q05586)
R19S (p.Arg19Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- gnomAD 9-137139541-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.32
- CADD 19.30
- PolyPhen-2 0.32
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available