C27S (p.Cys27Ser) variant of PMS2 (P54278)
C27S (p.Cys27Ser) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C27S (p.Cys27Ser) variant details
- p.Cys27Ser
- Ensembl rs2128845886
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available