E304K (p.Glu304Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E304K (p.Glu304Lys) 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 0.57 / 1. The record also includes population frequency data and structural context.
E304K (p.Glu304Lys) variant details
- p.Glu304Lys
- rs201311640
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- TOPMed rs201311640
- Pathogenic/Likely pathogenic
- Spastic paraplegia; X-linked complicated corpus callosum dysgenesis; Inborn gene
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- AlphaMissense 0.22
- MetaLR 0.48
- MetaSVM -0.01
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; X-linked complicated corpus callosum dysgene)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available