E27* (p.Glu27Ter) variant of CACNB2 (Q08289)
E27* (p.Glu27Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 10-18140815-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 39.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available