G83R (p.Gly83Arg) variant of L1CAM (Neural cell adhesion molecule L1)
G83R (p.Gly83Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of L1CAM-related disorder. The record also includes structural context.
G83R (p.Gly83Arg) variant details
- p.Gly83Arg
- rs2521035725
- ClinGen CA415138860
- ClinVar RCV003416709
- Uncertain significance
- L1CAM-related disorder
- Missense
- ClinVar: Uncertain significance (L1CAM-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available