G326R (p.Gly326Arg) variant of ALPL (P05186)
G326R (p.Gly326Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G326R (p.Gly326Arg) variant details
- p.Gly326Arg
- rs1644687066
- ClinGen CA338880403
- ClinVar RCV001387322
- ClinVar RCV002551555
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia… (PMID 11999978)
- Cited in: Hypophosphatasia. (PMID 20301329)