R86L (p.Arg86Leu) variant of LRP4 (O75096)
R86L (p.Arg86Leu) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The record also includes structural context.
R86L (p.Arg86Leu) variant details
- p.Arg86Leu
- ESP rs138239756
- ExAC rs138239756
- TOPMed rs138239756
- gnomAD rs138239756
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available