T142S (p.Thr142Ser) variant of L1CAM (Neural cell adhesion molecule L1)
T142S (p.Thr142Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T142S (p.Thr142Ser) variant details
- p.Thr142Ser
- ExAC rs782375245
- gnomAD rs782375245
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available