E24* (p.Glu24Ter) variant of CACNB2 (Q08289)
E24* (p.Glu24Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- gnomAD 10-18140806-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available