R8L (p.Arg8Leu) variant of GRIN2D (O15399)
R8L (p.Arg8Leu) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 19-48398409-GCCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available