E24K (p.Glu24Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E24K (p.Glu24Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD rs1557094385
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.09
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available