Y20* (p.Tyr20Ter) variant of CACNA1C (Q13936)
Y20* (p.Tyr20Ter) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Y20* (p.Tyr20Ter) variant details
- p.Tyr20Ter
- rs781275687
- gnomAD 12-2115234-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available