I97V (p.Ile97Val) variant of L1CAM (Neural cell adhesion molecule L1)
I97V (p.Ile97Val) 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.
I97V (p.Ile97Val) variant details
- p.Ile97Val
- rs2521035312
- ClinGen CA415138274
- ClinVar RCV002760152
- NCI-TCGA Cosmic COSV6282
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available