L9Q (p.Leu9Gln) variant of STK11 (Q15831)
L9Q (p.Leu9Gln) 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; Melanoma, cutaneous malignant, suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- rs764154797
- ClinGen CA402943096
- ClinVar RCV001190513
- ClinVar RCV001247437
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.38
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma, cutaneous mal)
- 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)