H472R (p.His472Arg) variant of ALPL (P05186)
H472R (p.His472Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H472R (p.His472Arg) variant details
- p.His472Arg
- rs1644755133
- ClinGen CA338882149
- ClinVar RCV001300488
- ClinVar RCV003447585
- Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.87
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)