E152K (p.Glu152Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E152K (p.Glu152Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E152K (p.Glu152Lys) variant details
- p.Glu152Lys
- rs2521026280
- ClinGen CA415136710
- ClinVar RCV003043277
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- CADD 18.70
- PolyPhen-2 0.18
- SIFT 0.32
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available