R113C (p.Arg113Cys) variant of L1CAM (Neural cell adhesion molecule L1)
R113C (p.Arg113Cys) 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 0.46 / 1. The record also includes population frequency data and structural context.
R113C (p.Arg113Cys) variant details
- p.Arg113Cys
- rs1434074663
- ClinGen CA415137842
- ClinVar RCV003752292
- TOPMed rs1434074663
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.26
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available