I179S (p.Ile179Ser) variant of L1CAM (Neural cell adhesion molecule L1)
I179S (p.Ile179Ser) 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 MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
I179S (p.Ile179Ser) variant details
- p.Ile179Ser
- rs137852523
- ClinGen CA254961
- ClinVar RCV000010676
- UniProt VAR 003923
- Pathogenic
- MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.95
- MetaLR 0.54
- MetaSVM 0.20
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (MASA syndrome)
- EBI: Pathogenic (in HYCX and MASA)
- UniProt: Pathogenic (in HYCX and MASA)
- Structural context available
- Cited in: X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the… (PMID 1870106)
- Cited in: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. (PMID 19846429)