N49D (p.Asn49Asp) variant of ALPL (P05186)
N49D (p.Asn49Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The record also includes structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- Ensembl rs1644471991
- Conflicting interpretations
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available