G83D (p.Gly83Asp) variant of L1CAM (Neural cell adhesion molecule L1)
G83D (p.Gly83Asp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- gnomAD rs2064778370
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.41
- CADD 12.90
- ClinVar: Uncertain significance (Spastic paraplegia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available