A6E (p.Ala6Glu) variant of PMS1 (PMS1 protein homolog 1)
A6E (p.Ala6Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- ExAC rs747835603
- TOPMed rs747835603
- gnomAD rs747835603
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.925