R129W (p.Arg129Trp) variant of L1CAM (Neural cell adhesion molecule L1)
R129W (p.Arg129Trp) 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; MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R129W (p.Arg129Trp) variant details
- p.Arg129Trp
- rs201978087
- ClinGen CA10554609
- ClinVar RCV001532221
- ClinVar RCV002359156
- Conflicting interpretations
- Spastic paraplegia; not provided; MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not provided; MASA syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)