P23L (p.Pro23Leu) variant of CACNA1C (Q13936)
P23L (p.Pro23Leu) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- gnomAD 12-2115242-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available