R68L (p.Arg68Leu) variant of L1CAM (Neural cell adhesion molecule L1)
R68L (p.Arg68Leu) 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 structural context.
R68L (p.Arg68Leu) variant details
- p.Arg68Leu
- rs2064778846
- ClinGen CA415139469
- ClinVar RCV001905603
- Ensembl rs2064778846
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.40
- MetaLR 0.06
- MetaSVM -1.13
- PolyPhen-2 0.89
- SIFT 0.04
- EVE 0.33
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available