A40G (p.Ala40Gly) variant of ALPL (P05186)
A40G (p.Ala40Gly) in ALPL (P05186) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HOPS. The record also includes structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- ExAC rs770093969
- TOPMed rs770093969
- gnomAD rs770093969
- Pathogenic
- in HOPS
- Missense
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available