R113L (p.Arg113Leu) variant of L1CAM (Neural cell adhesion molecule L1)
R113L (p.Arg113Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R113L (p.Arg113Leu) variant details
- p.Arg113Leu
- ExAC rs781908326
- TOPMed rs781908326
- gnomAD rs781908326
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available