G426D (p.Gly426Asp) variant of ALPL (P05186)
G426D (p.Gly426Asp) 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; Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G426D (p.Gly426Asp) variant details
- p.Gly426Asp
- rs2545347584
- ClinGen CA338881839
- ClinVar RCV003470120
- ClinVar RCV003553958
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.87
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Hypophosphatasia; not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Hypophosphatasia. (PMID 20301329)