E133K (p.Glu133Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E133K (p.Glu133Lys) 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 0.58 / 1. The record also includes population frequency data and structural context.
E133K (p.Glu133Lys) variant details
- p.Glu133Lys
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62829
- TOPMed rs1603276528
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.50
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available