F67L (p.Phe67Leu) variant of L1CAM (Neural cell adhesion molecule L1)
F67L (p.Phe67Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- TOPMed rs1465205361
- gnomAD rs1465205361
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available