R43W (p.Arg43Trp) variant of L1CAM (Neural cell adhesion molecule L1)
R43W (p.Arg43Trp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- gnomAD rs1557093590
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available