E309K (p.Glu309Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E309K (p.Glu309Lys) 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 Spastic paraplegia; X-linked complicated corpus callosum dysgenesis; Inborn gene. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E309K (p.Glu309Lys) variant details
- p.Glu309Lys
- rs367665974
- ClinGen CA10554471
- cosmic curated COSV62826
- ClinVar RCV001040041
- Pathogenic/Likely pathogenic
- Spastic paraplegia; X-linked complicated corpus callosum dysgenesis; Inborn gene
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.54
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 0.89
- SIFT 0.22
- EVE 0.24
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; X-linked complicated corpus callosum dysgene)
- EBI: Pathogenic (in MASA)
- UniProt: Pathogenic (in MASA)
- Population evidence available
- Structural context available
- Cited in: L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. (PMID 22973895)
- Cited in: Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. (PMID 24155914)