S89* (p.Ser89Ter) variant of L1CAM (Neural cell adhesion molecule L1)
S89* (p.Ser89Ter) in L1CAM (Neural cell adhesion molecule L1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S89* (p.Ser89Ter) variant details
- p.Ser89Ter
- rs782178366
- ClinGen CA415138581
- ClinVar RCV000493177
- 1000Genomes rs782178366
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.25
- MetaLR 0.28
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available