Y20C (p.Tyr20Cys) variant of CACNA1C (Q13936)
Y20C (p.Tyr20Cys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- gnomAD 12-1971187-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available