R129Q (p.Arg129Gln) variant of L1CAM (Neural cell adhesion molecule L1)
R129Q (p.Arg129Gln) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spastic paraplegia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R129Q (p.Arg129Gln) variant details
- p.Arg129Gln
- rs200809259
- ClinGen CA245107
- ClinVar RCV000178099
- ClinVar RCV001515064
- Conflicting interpretations
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available