L38S (p.Leu38Ser) variant of CACNA1C (Q13936)
L38S (p.Leu38Ser) 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 and published literature.
L38S (p.Leu38Ser) variant details
- p.Leu38Ser
- gnomAD 12-1971157-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 23.60
- Population evidence available
- Literature evidence available