S19L (p.Ser19Leu) variant of STK11 (Q15831)
S19L (p.Ser19Leu) 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; not specified; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs1426026332
- ClinGen CA402943356
- ClinVar RCV000663263
- ClinVar RCV000777388
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.39
- MetaLR 0.48
- MetaSVM -0.09
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Peutz-Je)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)