S9* (p.Ser9Ter) variant of CACNB2 (Q08289)
S9* (p.Ser9Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S9* (p.Ser9Ter) variant details
- p.Ser9Ter
- gnomAD 10-18140762-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available