D99H (p.Asp99His) variant of LRP4 (O75096)
D99H (p.Asp99His) in LRP4 (O75096) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The record also includes population frequency data and structural context.
D99H (p.Asp99His) variant details
- p.Asp99His
- Ensembl rs1941640298
- Likely pathogenic
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available