A164V (p.Ala164Val) variant of L1CAM (Neural cell adhesion molecule L1)
A164V (p.Ala164Val) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of L1CAM-related disorder. The record also includes structural context.
A164V (p.Ala164Val) variant details
- p.Ala164Val
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62827
- Uncertain significance
- L1CAM-related disorder
- Missense
- ClinVar: Uncertain significance (L1CAM-related disorder)
- UniProt: Uncertain significance
- Structural context available