G339R (p.Gly339Arg) variant of ALPL (P05186)
G339R (p.Gly339Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G339R (p.Gly339Arg) variant details
- p.Gly339Arg
- rs2148189619
- ClinGen CA338880993
- ClinVar RCV001942171
- ClinVar RCV003447611
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided)
- 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: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)