R24S (p.Arg24Ser) variant of CACNA1C (Q13936)
R24S (p.Arg24Ser) 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.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- gnomAD 12-2115244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.36
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available