E183K (p.Glu183Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E183K (p.Glu183Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E183K (p.Glu183Lys) variant details
- p.Glu183Lys
- rs782698098
- ClinGen CA10554553
- ClinVar RCV003870487
- ExAC rs782698098
- Benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.33
- CADD 20.20
- PolyPhen-2 0.59
- SIFT 0.12
- ClinVar: Benign (Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available