V4L (p.Val4Leu) variant of STK11 (Q15831)
V4L (p.Val4Leu) 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; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs767300470
- ClinGen CA402942957
- ClinVar RCV000701189
- ClinVar RCV004569364
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)