S1224L (p.Ser1224Leu) variant of L1CAM (Neural cell adhesion molecule L1)
S1224L (p.Ser1224Leu) 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 Inborn genetic diseases; L1 syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
S1224L (p.Ser1224Leu) variant details
- p.Ser1224Leu
- rs2148491960
- ClinGen CA415106498
- NCI-TCGA Cosmic COSV9905
- cosmic curated COSV99055
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; L1 syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.57
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; L1 syndrome; not provided)
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- 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)