L120V (p.Leu120Val) variant of L1CAM (Neural cell adhesion molecule L1)
L120V (p.Leu120Val) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes published literature and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- rs796052697
- UniProt VAR 078355
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. (PMID 24155914)