L68P (p.Leu68Pro) variant of CACNA1S (Q13698)
L68P (p.Leu68Pro) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- TOPMed rs1448468275
- gnomAD rs1448468275
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 28.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available