R8P (p.Arg8Pro) variant of GRIN2D (O15399)
R8P (p.Arg8Pro) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- gnomAD 19-48398409-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available