V382I (p.Val382Ile) variant of ALPL (P05186)
V382I (p.Val382Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V382I (p.Val382Ile) variant details
- p.Val382Ile
- rs771540767
- ClinGen CA666741
- cosmic curated COSV66376
- ClinVar RCV000411905
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.06
- CADD 23.60
- PolyPhen-2 0.96
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile 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: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)