M18I (p.Met18Ile) variant of STK11 (Q15831)
M18I (p.Met18Ile) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M18I (p.Met18Ile) variant details
- p.Met18Ile
- rs755436889
- NCI-TCGA TCGA novel
- ClinGen CA048056
- ClinVar RCV001024190
- Uncertain significance
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.96
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)