E127D (p.Glu127Asp) variant of L1CAM (Neural cell adhesion molecule L1)
E127D (p.Glu127Asp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E127D (p.Glu127Asp) variant details
- p.Glu127Asp
- TOPMed rs1387074915
- gnomAD rs1387074915
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 20.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available