R473C (p.Arg473Cys) variant of L1CAM (Neural cell adhesion molecule L1)
R473C (p.Arg473Cys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; L1 syndrome; MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R473C (p.Arg473Cys) variant details
- p.Arg473Cys
- rs886039408
- ClinGen CA10588750
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62826
- Pathogenic/Likely pathogenic
- not provided; L1 syndrome; MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.92
- MetaLR 0.75
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; L1 syndrome; MASA syndrome)
- EBI: Pathogenic (in HYCX and MASA)
- UniProt: Pathogenic (in HYCX and MASA)
- Structural context available
- Cited in: Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. (PMID 9744477)
- Cited in: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PMID 10797421)