S87F (p.Ser87Phe) variant of LRP4 (O75096)
S87F (p.Ser87Phe) 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 population frequency data and structural context.
S87F (p.Ser87Phe) variant details
- p.Ser87Phe
- ESP rs376802865
- ExAC rs376802865
- TOPMed rs376802865
- gnomAD rs376802865
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available