R68H (p.Arg68His) variant of L1CAM (Neural cell adhesion molecule L1)
R68H (p.Arg68His) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R68H (p.Arg68His) variant details
- p.Arg68His
- Ensembl rs2064778846
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.11
- AlphaMissense 0.40
- MetaLR 0.06
- MetaSVM -1.13
- CADD 20.90
- PolyPhen-2 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available