A443S (p.Ala443Ser) variant of ALPL (P05186)
A443S (p.Ala443Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; Childhood hypophosphatasia; Adult hypophosphatasia. The record also includes published literature and structural context.
A443S (p.Ala443Ser) variant details
- p.Ala443Ser
- rs2545350189
- ClinVar RCV004586481
- ClinVar RCV004690511
- ClinVar RCV005015203
- Conflicting interpretations
- Hypophosphatasia; Childhood hypophosphatasia; Adult hypophosphatasia
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; Childhood hypophosphatasia; Adult hypophosphat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)