G61E (p.Gly61Glu) variant of ALPL (P05186)
G61E (p.Gly61Glu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia. The record also includes published literature and structural context.
G61E (p.Gly61Glu) variant details
- p.Gly61Glu
- rs2545291966
- ClinGen CA338877824
- ClinVar RCV002843244
- ClinVar RCV005645411
- Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)