I29M (p.Ile29Met) variant of STK11 (Q15831)
I29M (p.Ile29Met) 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.
I29M (p.Ile29Met) variant details
- p.Ile29Met
- ExAC rs745530022
- gnomAD rs745530022
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available