S28T (p.Ser28Thr) variant of PMS2 (P54278)
S28T (p.Ser28Thr) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S28T (p.Ser28Thr) variant details
- p.Ser28Thr
- ExAC rs587781908
- TOPMed rs587781908
- gnomAD rs587781908
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available