S60I (p.Ser60Ile) variant of L1CAM (Neural cell adhesion molecule L1)
S60I (p.Ser60Ile) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spastic paraplegia; not provided. The record also includes structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- rs2521038376
- ClinGen CA415139901
- ClinVar RCV003046315
- ClinVar RCV003236945
- Conflicting interpretations
- Spastic paraplegia; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available