G144R (p.Gly144Arg) variant of ALPL (P05186)
G144R (p.Gly144Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; Adult hypophosphatasia; not provided. The record also includes structural context.
G144R (p.Gly144Arg) variant details
- p.Gly144Arg
- NCI-TCGA Cosmic COSV6638
- cosmic curated COSV66380
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Adult hypophosphatasia; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Adult hypophosphatasia; not provided)
- UniProt: Likely pathogenic
- Structural context available