L9P (p.Leu9Pro) variant of STK11 (Q15831)
L9P (p.Leu9Pro) 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 provided; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs764154797
- ClinGen CA046750
- ClinVar RCV003337821
- ClinVar RCV003368073
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.81
- CADD 23.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)