P162A (p.Pro162Ala) variant of L1CAM (Neural cell adhesion molecule L1)
P162A (p.Pro162Ala) 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.
P162A (p.Pro162Ala) variant details
- p.Pro162Ala
- rs2521026140
- ClinGen CA415136497
- ClinVar RCV003019453
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available