M8L (p.Met8Leu) variant of CACNA1C (Q13936)
M8L (p.Met8Leu) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M8L (p.Met8Leu) variant details
- p.Met8Leu
- gnomAD 12-2053584-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.49
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available