P6L (p.Pro6Leu) variant of STK11 (Q15831)
P6L (p.Pro6Leu) 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 0.32 / 1. The record also includes published literature and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs775346785
- ClinGen CA402943039
- ClinVar RCV001213601
- ClinVar RCV001525629
- Uncertain significance
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.34
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome; 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)