P240L (p.Pro240Leu) variant of L1CAM (Neural cell adhesion molecule L1)
P240L (p.Pro240Leu) 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 L1CAM-related disorder; Spastic paraplegia; L1 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
P240L (p.Pro240Leu) variant details
- p.Pro240Leu
- rs137852526
- ClinGen CA120882
- cosmic curated COSV10528
- ClinVar RCV000010683
- Pathogenic/Likely pathogenic
- L1CAM-related disorder; Spastic paraplegia; L1 syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.97
- MetaLR 0.54
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (L1CAM-related disorder; Spastic paraplegia; L1 syndrome)
- EBI: Pathogenic (in HYCX and ACCPX)
- UniProt: Pathogenic (in HYCX and ACCPX)
- Structural context available
- Cited in: Expanding the phenotypic spectrum of L1CAM-associated disease. (PMID 16650080)
- Cited in: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. (PMID 8929944)