F25L (p.Phe25Leu) variant of STK11 (Q15831)
F25L (p.Phe25Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- rs2145404749
- ClinGen CA402943494
- ClinVar RCV002384882
- Ensembl rs2145404749
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.53
- AlphaMissense 0.94
- MetaLR 0.65
- MetaSVM 0.33
- CADD 24.10
- PolyPhen-2 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)