R44S (p.Arg44Ser) variant of L1CAM (Neural cell adhesion molecule L1)
R44S (p.Arg44Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- ESP rs370782270
- ExAC rs370782270
- TOPMed rs370782270
- gnomAD rs370782270
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 0.16
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available