L38Q (p.Leu38Gln) variant of CACNA1C (Q13936)
L38Q (p.Leu38Gln) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- rs753529892
- gnomAD 12-1971121-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 17.40
- Population evidence available
- Literature evidence available