G48E (p.Gly48Glu) variant of PMS1 (PMS1 protein homolog 1)
G48E (p.Gly48Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- TOPMed rs1180123369
- gnomAD rs1180123369
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0783