M56L (p.Met56Leu) variant of ALPL (P05186)
M56L (p.Met56Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The record also includes structural context.
M56L (p.Met56Leu) variant details
- p.Met56Leu
- ExAC rs760272172
- TOPMed rs760272172
- gnomAD rs760272172
- Uncertain significance
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- ClinVar: Uncertain significance (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available