Y12* (p.Tyr12Ter) variant of CACNA1B (Q00975)
Y12* (p.Tyr12Ter) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- gnomAD 9-137877969-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available