S17F (p.Ser17Phe) variant of ALPL (P05186)
S17F (p.Ser17Phe) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia. The record also includes published literature and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- cosmic curated COSV10654
- UniProt VAR 025903
- Pathogenic/Likely pathogenic
- Hypophosphatasia
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European… (PMID 9781036)
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)