G28E (p.Gly28Glu) variant of L1CAM (Neural cell adhesion molecule L1)
G28E (p.Gly28Glu) 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 0.43 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- NCI-TCGA Cosmic COSV6282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.32
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available