A69T (p.Ala69Thr) variant of ALPL (P05186)
A69T (p.Ala69Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The record also includes structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD rs1178008018
- Likely pathogenic
- Hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (Hypophosphatasia)
- UniProt: Likely pathogenic
- Structural context available