C158Y (p.Cys158Tyr) variant of L1CAM (Neural cell adhesion molecule L1)
C158Y (p.Cys158Tyr) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
C158Y (p.Cys158Tyr) variant details
- p.Cys158Tyr
- rs1603276234
- ClinGen CA415136571
- ClinVar RCV000794906
- Ensembl rs1603276234
- Likely pathogenic
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Spastic paraplegia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available