R43L (p.Arg43Leu) variant of L1CAM (Neural cell adhesion molecule L1)
R43L (p.Arg43Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- ExAC rs782819951
- gnomAD rs782819951
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.18
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available