V20L (p.Val20Leu) variant of STK11 (Q15831)
V20L (p.Val20Leu) 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 0.45 / 1. The record also includes published literature and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs1555734898
- ClinGen CA402943365
- ClinVar RCV000542775
- ClinVar RCV003278882
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.16
- MetaLR 0.45
- MetaSVM -0.47
- PolyPhen-2 0.06
- SIFT 0.25
- MutPred 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)