T8S (p.Thr8Ser) variant of PMS1 (PMS1 protein homolog 1)
T8S (p.Thr8Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- ExAC rs777641087
- TOPMed rs777641087
- gnomAD rs777641087
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.66