G456R (p.Gly456Arg) variant of ALPL (P05186)
G456R (p.Gly456Arg) 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; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G456R (p.Gly456Arg) variant details
- p.Gly456Arg
- rs121918016
- ClinGen CA256934
- cosmic curated COSV66376
- ClinVar RCV000014674
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided; Adult hypophosphatasia)
- EBI: Pathogenic (in HPPI and HOPS)
- UniProt: Pathogenic (in HPPI and HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)
- Cited in: Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. (PMID 8954059)