R107K (p.Arg107Lys) variant of L1CAM (Neural cell adhesion molecule L1)
R107K (p.Arg107Lys) 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 0.24 / 1. The record also includes population frequency data and structural context.
R107K (p.Arg107Lys) variant details
- p.Arg107Lys
- rs1267143652
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62829
- TOPMed rs1267143652
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.04
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available