L58P (p.Leu58Pro) variant of ALPL (P05186)
L58P (p.Leu58Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia. The record also includes published literature and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- rs2545290283
- ClinGen CA338877730
- ClinVar RCV003991958
- Likely pathogenic
- Adult hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (Adult hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)