V84L (p.Val84Leu) variant of L1CAM (Neural cell adhesion molecule L1)
V84L (p.Val84Leu) 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.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- rs2521035690
- ClinGen CA415138822
- ClinVar RCV002819227
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available