R33G (p.Arg33Gly) variant of HADHB (P55084)
R33G (p.Arg33Gly) in HADHB (P55084) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- ExAC rs752264795
- TOPMed rs752264795
- gnomAD rs752264795
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available