L6F (p.Leu6Phe) variant of KRAS (GTPase KRas)
L6F (p.Leu6Phe) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Prostate cancer, hereditary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- rs1296330213
- ClinGen CA384157517
- ClinVar RCV002292293
- Uncertain significance
- Prostate cancer, hereditary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.41
- MetaLR 0.40
- MetaSVM -0.03
- PolyPhen-2 0.98
- SIFT 0.05
- EVE 0.24
- ClinVar: Uncertain significance (Prostate cancer, hereditary, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.626
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Molecular Biomarkers in Localized Prostate Cancer: ASCO Guideline. (PMID 31829902)