A51S (p.Ala51Ser) variant of ALPL (P05186)
A51S (p.Ala51Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; not specified. The record also includes published literature and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- UniProt VAR 025904
- Conflicting interpretations
- Hypophosphatasia; not specified
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; not specified)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)