R304P (p.Arg304Pro) variant of STK11 (Q15831)
R304P (p.Arg304Pro) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R304P (p.Arg304Pro) variant details
- p.Arg304Pro
- rs376280361
- ClinGen CA402951309
- ClinVar RCV000492320
- ClinVar RCV003105924
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)