R6W (p.Arg6Trp) variant of L1CAM (Neural cell adhesion molecule L1)
R6W (p.Arg6Trp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs2521057181
- ClinGen CA415143217
- ClinVar RCV003751816
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available