P160S (p.Pro160Ser) variant of L1CAM (Neural cell adhesion molecule L1)
P160S (p.Pro160Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P160S (p.Pro160Ser) variant details
- p.Pro160Ser
- TOPMed rs1557093000
- gnomAD rs1557093000
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.76
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available