N94S (p.Asn94Ser) variant of LRP4 (O75096)
N94S (p.Asn94Ser) 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.
N94S (p.Asn94Ser) variant details
- p.Asn94Ser
- ExAC rs759355938
- TOPMed rs759355938
- gnomAD rs759355938
- 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