A28D (p.Ala28Asp) variant of CACNA1C (Q13936)
A28D (p.Ala28Asp) in CACNA1C (Q13936) is a missense 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.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 12-2115257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available