E80* (p.Glu80Ter) variant of GRIN1 (Q05586)
E80* (p.Glu80Ter) in GRIN1 (Q05586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E80* (p.Glu80Ter) variant details
- p.Glu80Ter
- gnomAD 9-137139724-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available