T9R (p.Thr9Arg) variant of PMS2 (P54278)
T9R (p.Thr9Arg) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- TOPMed rs1210073386
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available