G18* (p.Gly18Ter) variant of CACNA1B (Q00975)
G18* (p.Gly18Ter) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G18* (p.Gly18Ter) variant details
- p.Gly18Ter
- gnomAD 9-137877985-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available