Q106H (p.Gln106His) variant of L1CAM (Neural cell adhesion molecule L1)
Q106H (p.Gln106His) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
Q106H (p.Gln106His) variant details
- p.Gln106His
- ExAC rs782780120
- TOPMed rs782780120
- gnomAD rs782780120
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Likely benign (Spastic paraplegia)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available