K16* (p.Lys16Ter) variant of PMS2 (P54278)
K16* (p.Lys16Ter) in PMS2 (P54278) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K16* (p.Lys16Ter) variant details
- p.Lys16Ter
- ExAC rs777845808
- TOPMed rs777845808
- gnomAD rs777845808
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available