E38* (p.Glu38Ter) variant of ADD1 (Alpha-adducin)
E38* (p.Glu38Ter) in ADD1 (Alpha-adducin) 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.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- rs759381155
- gnomAD 4-2876027-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.877
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available