G452R (p.Gly452Arg) variant of L1CAM (Neural cell adhesion molecule L1)
G452R (p.Gly452Arg) 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 0.83 / 1. The record also includes published literature and structural context.
G452R (p.Gly452Arg) variant details
- p.Gly452Arg
- rs137852520
- ClinGen CA254958
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62831
- Pathogenic
- Spastic paraplegia; L1 syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Spastic paraplegia; L1 syndrome; not provided)
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available
- Cited in: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. (PMID 7920659)
- Cited in: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and… (PMID 8556302)