V752M (p.Val752Met) variant of L1CAM (Neural cell adhesion molecule L1)
V752M (p.Val752Met) 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 Spastic paraplegia; L1 syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V752M (p.Val752Met) variant details
- p.Val752Met
- rs137852525
- ClinGen CA120881
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62830
- Pathogenic
- Spastic paraplegia; L1 syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.72
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Spastic paraplegia; L1 syndrome; not provided)
- EBI: Pathogenic (in HYCX and MASA)
- UniProt: Pathogenic (in HYCX and MASA)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (PMID 11857550)
- Cited in: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. (PMID 19846429)