K21M (p.Lys21Met) variant of PMS2 (P54278)
K21M (p.Lys21Met) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K21M (p.Lys21Met) variant details
- p.Lys21Met
- TOPMed rs1458424619
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available