G129E (p.Gly129Glu) variant of ALPL (P05186)
G129E (p.Gly129Glu) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Childhood hypophosphatasia. The record also includes structural context.
G129E (p.Gly129Glu) variant details
- p.Gly129Glu
- cosmic curated COSV66379
- Likely pathogenic
- Childhood hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (Childhood hypophosphatasia)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available