E25K (p.Glu25Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E25K (p.Glu25Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- TOPMed rs1335792529
- gnomAD rs1335792529
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.17
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available