V143M (p.Val143Met) variant of L1CAM (Neural cell adhesion molecule L1)
V143M (p.Val143Met) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V143M (p.Val143Met) variant details
- p.Val143Met
- gnomAD rs1557093013
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available