E1475* (p.Glu1475Ter) variant of GRIN2B (Q13224)
E1475* (p.Glu1475Ter) in GRIN2B (Q13224) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E1475* (p.Glu1475Ter) variant details
- p.Glu1475Ter
- rs1555101495
- gnomAD 12-13562815-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available