S89L (p.Ser89Leu) variant of L1CAM (Neural cell adhesion molecule L1)
S89L (p.Ser89Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S89L (p.Ser89Leu) variant details
- p.Ser89Leu
- rs782178366
- ClinGen CA10554626
- ClinVar RCV000864758
- 1000Genomes rs782178366
- Benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.16
- AlphaMissense 0.25
- MetaLR 0.28
- MetaSVM -0.85
- CADD 6.45
- PolyPhen-2 0.00
- ClinVar: Benign (Spastic paraplegia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available