S445P (p.Ser445Pro) variant of ALPL (P05186)
S445P (p.Ser445Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S445P (p.Ser445Pro) variant details
- p.Ser445Pro
- rs1553415041
- ClinGen CA338881981
- ClinVar RCV000667672
- ClinVar RCV004017715
- Pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.90
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European… (PMID 9781036)