G82R (p.Gly82Arg) variant of ALPL (P05186)
G82R (p.Gly82Arg) 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. The record also includes published literature and structural context.
G82R (p.Gly82Arg) variant details
- p.Gly82Arg
- rs2545292224
- ClinGen CA338878055
- ClinVar RCV003447660
- ClinGen CA338878058
- Pathogenic/Likely pathogenic
- Hypophosphatasia
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family. (PMID 33821301)
- Cited in: Hypophosphatasia. (PMID 20301329)