E27A (p.Glu27Ala) variant of L1CAM (Neural cell adhesion molecule L1)
E27A (p.Glu27Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD rs1557093757
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Likely benign (Spastic paraplegia)
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available