G83S (p.Gly83Ser) variant of L1CAM (Neural cell adhesion molecule L1)
G83S (p.Gly83Ser) 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 Spastic paraplegia. The record also includes structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- rs2521035725
- ClinGen CA415138864
- ClinVar RCV003751731
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available