R44L (p.Arg44Leu) variant of L1CAM (Neural cell adhesion molecule L1)
R44L (p.Arg44Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available