A105P (p.Ala105Pro) variant of L1CAM (Neural cell adhesion molecule L1)
A105P (p.Ala105Pro) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A105P (p.Ala105Pro) variant details
- p.Ala105Pro
- TOPMed rs1192196478
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.11
- CADD 17.30
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available