S1194L (p.Ser1194Leu) variant of L1CAM (Neural cell adhesion molecule L1)
S1194L (p.Ser1194Leu) 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 Hydrops fetalis; Severe hydrocephalus; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S1194L (p.Ser1194Leu) variant details
- p.Ser1194Leu
- rs137852522
- ClinGen CA254960
- ClinVar RCV000010674
- ClinVar RCV000010675
- Pathogenic/Likely pathogenic
- Hydrops fetalis; Severe hydrocephalus; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.77
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hydrops fetalis; Severe hydrocephalus; Inborn genetic diseases)
- EBI: Pathogenic (in HYCX and MASA)
- UniProt: Pathogenic (in HYCX and MASA)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the… (PMID 7881431)
- Cited in: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and… (PMID 8556302)