A47V (p.Ala47Val) variant of LRP4 (O75096)
A47V (p.Ala47Val) in LRP4 (O75096) is a missense change. Clinical records from ClinVar 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.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- NCI-TCGA TCGA novel
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- UniProt: Uncertain significance
- Structural context available