C264Y (p.Cys264Tyr) variant of L1CAM (Neural cell adhesion molecule L1)
C264Y (p.Cys264Tyr) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked hydrocephalus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C264Y (p.Cys264Tyr) variant details
- p.Cys264Tyr
- rs137852518
- ClinGen CA254954
- ClinVar RCV000010667
- UniProt VAR 003929
- Pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (X-linked hydrocephalus syndrome)
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available
- Cited in: The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. (PMID 12514225)
- Cited in: L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. (PMID 22973895)