R68C (p.Arg68Cys) variant of L1CAM (Neural cell adhesion molecule L1)
R68C (p.Arg68Cys) 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 0.46 / 1. The record also includes population frequency data and structural context.
R68C (p.Arg68Cys) variant details
- p.Arg68Cys
- rs1172761444
- ClinGen CA415139517
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62829
- Conflicting interpretations
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available