R24L (p.Arg24Leu) variant of CACNA1C (Q13936)
R24L (p.Arg24Leu) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- gnomAD 12-2115245-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.40
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available