E43* (p.Glu43Ter) variant of KCNB1 (Q14721)
E43* (p.Glu43Ter) in KCNB1 (Q14721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- gnomAD 20-49299368-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 35.00
- Population evidence available
- Literature evidence available