P23H (p.Pro23His) variant of CACNA1C (Q13936)
P23H (p.Pro23His) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- gnomAD 12-2115239-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available