I169V (p.Ile169Val) variant of L1CAM (Neural cell adhesion molecule L1)
I169V (p.Ile169Val) 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.
I169V (p.Ile169Val) variant details
- p.Ile169Val
- gnomAD rs1557092993
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- CADD 24.20
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available