M11T (p.Met11Thr) variant of STK11 (Q15831)
M11T (p.Met11Thr) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- rs2145404514
- ClinGen CA402943126
- ClinVar RCV002326216
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.12
- MetaLR 0.16
- MetaSVM -0.91
- PolyPhen-2 0.03
- SIFT 0.03
- MutPred 0.38
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)