S41C (p.Ser41Cys) variant of L1CAM (Neural cell adhesion molecule L1)
S41C (p.Ser41Cys) 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 not provided. The record also includes structural context.
S41C (p.Ser41Cys) variant details
- p.Ser41Cys
- rs2521039021
- ClinGen CA415140442
- ClinVar RCV003487983
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available