E30G (p.Glu30Gly) variant of GRIN2D (O15399)
E30G (p.Glu30Gly) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- gnomAD 19-48398478-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available