E452K (p.Glu452Lys) variant of ALPL (P05186)
E452K (p.Glu452Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E452K (p.Glu452Lys) variant details
- p.Glu452Lys
- rs966212736
- ClinGen CA19072025
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic/Likely pathogenic
- Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)