G33* (p.Gly33Ter) variant of CACNB2 (Q08289)
G33* (p.Gly33Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G33* (p.Gly33Ter) variant details
- p.Gly33Ter
- gnomAD 10-18141195-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available