R28P (p.Arg28Pro) variant of STK11 (Q15831)
R28P (p.Arg28Pro) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The record also includes structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- TOPMed rs1331020864
- gnomAD rs1331020864
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available