I20L (p.Ile20Leu) variant of L1CAM (Neural cell adhesion molecule L1)
I20L (p.Ile20Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- TOPMed rs1311732412
- gnomAD rs1311732412
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.27
- CADD 23.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available