R304W (p.Arg304Trp) variant of STK11 (Q15831)
R304W (p.Arg304Trp) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R304W (p.Arg304Trp) variant details
- p.Arg304Trp
- rs786201090
- ClinGen CA023348
- NCI-TCGA Cosmic COSV5882
- cosmic curated COSV58820
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 0.99
- 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: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)