Q3* (p.Gln3Ter) variant of CACNB2 (Q08289)
Q3* (p.Gln3Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- gnomAD 10-18141186-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available