T45A (p.Thr45Ala) variant of CACNA1C (Q13936)
T45A (p.Thr45Ala) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- rs765021607
- gnomAD 12-1971153-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available