M18T (p.Met18Thr) variant of STK11 (Q15831)
M18T (p.Met18Thr) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- rs1555734894
- ClinGen CA089423
- ClinVar RCV000575786
- ClinVar RCV000798678
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.21
- MetaSVM -0.76
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)