E3* (p.Glu3Ter) variant of KCNQ4 (P56696)
E3* (p.Glu3Ter) in KCNQ4 (P56696) 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.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 1-40784100-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available