Q106R (p.Gln106Arg) variant of L1CAM (Neural cell adhesion molecule L1)
Q106R (p.Gln106Arg) 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 0.22 / 1. The record also includes population frequency data and structural context.
Q106R (p.Gln106Arg) variant details
- p.Gln106Arg
- rs1557093395
- ClinGen CA415138046
- ClinVar RCV003751420
- gnomAD rs1557093395
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.35
- SIFT 0.17
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available