R24G (p.Arg24Gly) variant of CACNA1C (Q13936)
R24G (p.Arg24Gly) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- gnomAD 12-2115244-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.47
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available