A12S (p.Ala12Ser) variant of PMS2 (P54278)
A12S (p.Ala12Ser) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- TOPMed rs1481967985
- gnomAD rs1481967985
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available