R24C (p.Arg24Cys) variant of CACNA1C (Q13936)
R24C (p.Arg24Cys) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- gnomAD 12-2115238-AGCCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available