T13M (p.Thr13Met) variant of STK11 (Q15831)
T13M (p.Thr13Met) 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; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T13M (p.Thr13Met) variant details
- p.Thr13Met
- rs1599914790
- ClinGen CA402943176
- ClinVar RCV000820072
- ClinVar RCV001181154
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.93
- CADD 22.50
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)