T98M (p.Thr98Met) variant of L1CAM (Neural cell adhesion molecule L1)
T98M (p.Thr98Met) 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 0.25 / 1. The record also includes population frequency data and structural context.
T98M (p.Thr98Met) variant details
- p.Thr98Met
- rs375000497
- ClinGen CA10554619
- ClinVar RCV003590809
- ESP rs375000497
- Benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.22
- CADD 15.00
- PolyPhen-2 0.34
- SIFT 0.10
- ClinVar: Benign (Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available