E7* (p.Glu7Ter) variant of CACNA1B (Q00975)
E7* (p.Glu7Ter) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD 9-137877952-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 6.1e-06)
- Structural context available
- Literature evidence available