V3L (p.Val3Leu) variant of STK11 (Q15831)
V3L (p.Val3Leu) 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 0.34 / 1. The record also includes published literature and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- rs906049559
- ClinGen CA304016681
- ClinVar RCV001179969
- ClinVar RCV001875963
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing 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)