E64K (p.Glu64Lys) variant of L1CAM (Neural cell adhesion molecule L1)
E64K (p.Glu64Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- rs782092168
- ClinGen CA10554650
- ClinVar RCV003750762
- ExAC rs782092168
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.05
- CADD 8.72
- PolyPhen-2 0.06
- SIFT 0.47
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available