Y784C (p.Tyr784Cys) variant of L1CAM (Neural cell adhesion molecule L1)
Y784C (p.Tyr784Cys) 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 0.89 / 1. The record also includes published literature and structural context.
Y784C (p.Tyr784Cys) variant details
- p.Tyr784Cys
- rs797045674
- ClinGen CA205417
- ClinVar RCV006270229
- UniProt VAR 003942
- Pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.91
- MetaLR 0.85
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (X-linked hydrocephalus syndrome)
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available
- Cited in: Nine novel L1 CAM mutations in families with X-linked hydrocephalus. (PMID 9195224)
- Cited in: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PMID 10797421)