Y20L (p.Tyr20Leu) variant of CACNA1C (Q13936)
Y20L (p.Tyr20Leu) in CACNA1C (Q13936) 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.
Y20L (p.Tyr20Leu) variant details
- p.Tyr20Leu
- gnomAD 12-1971181-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available