M295L (p.Met295Leu) variant of ALPL (P05186)
M295L (p.Met295Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The record also includes structural context.
M295L (p.Met295Leu) variant details
- p.Met295Leu
- Ensembl rs1644684403
- Likely pathogenic
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available