E43* (p.Glu43Ter) variant of KCNE1 (P15382)
E43* (p.Glu43Ter) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- gnomAD 21-34449508-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 34.00
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.01
- Literature evidence available