K119E (p.Lys119Glu) variant of L1CAM (Neural cell adhesion molecule L1)
K119E (p.Lys119Glu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K119E (p.Lys119Glu) variant details
- p.Lys119Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available