W308L (p.Trp308Leu) variant of STK11 (Q15831)
W308L (p.Trp308Leu) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome; Familial pancreatic carcinoma; Melanoma, cutaneous malig. The record also includes published literature and structural context.
W308L (p.Trp308Leu) variant details
- p.Trp308Leu
- rs864622488
- ClinGen CA349711
- cosmic curated COSV58822
- ClinVar RCV000205568
- Likely pathogenic
- Peutz-Jeghers syndrome; Familial pancreatic carcinoma; Melanoma, cutaneous malig
- Missense
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome; Familial pancreatic carcinoma; Melanoma,)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Structural context available
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)