T98R (p.Thr98Arg) variant of L1CAM (Neural cell adhesion molecule L1)
T98R (p.Thr98Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spastic paraplegia. 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.
T98R (p.Thr98Arg) variant details
- p.Thr98Arg
- ESP rs375000497
- ExAC rs375000497
- TOPMed rs375000497
- gnomAD rs375000497
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.39
- CADD 17.10
- PolyPhen-2 0.47
- SIFT 0.35
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available