G334D (p.Gly334Asp) variant of ALPL (P05186)
G334D (p.Gly334Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G334D (p.Gly334Asp) variant details
- p.Gly334Asp
- rs121918009
- ClinGen CA256929
- ClinVar RCV000014663
- ClinVar RCV000207270
- Pathogenic/Likely pathogenic
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.89
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)