A69V (p.Ala69Val) variant of ALPL (P05186)
A69V (p.Ala69Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypophosphatasia. The record also includes published literature and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs2545292067
- ClinVar RCV004586512
- Uncertain significance
- Hypophosphatasia
- Missense
- ClinVar: Uncertain significance (Hypophosphatasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)