A123S (p.Ala123Ser) variant of L1CAM (Neural cell adhesion molecule L1)
A123S (p.Ala123Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A123S (p.Ala123Ser) variant details
- p.Ala123Ser
- ExAC rs782752037
- TOPMed rs782752037
- gnomAD rs782752037
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.35
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available