E298K (p.Glu298Lys) variant of ALPL (P05186)
E298K (p.Glu298Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E298K (p.Glu298Lys) variant details
- p.Glu298Lys
- rs121918017
- ClinGen CA256926
- ClinVar RCV000014657
- ClinVar RCV001549327
- Pathogenic/Likely pathogenic
- ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- CADD 28.10
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (ALPL-related disorder; Adult hypophosphatasia; Childhood hypopho)
- EBI: Pathogenic (in HPPI)
- UniProt: Pathogenic (in HPPI)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)
- Cited in: Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with… (PMID 7833929)