R24H (p.Arg24His) variant of CACNA1C (Q13936)
R24H (p.Arg24His) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- rs200941579
- gnomAD 12-2115245-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.48
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available