E14G (p.Glu14Gly) variant of STK11 (Q15831)
E14G (p.Glu14Gly) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- rs750708224
- ClinGen CA022924
- ClinVar RCV000165124
- ClinVar RCV000632805
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.34
- MetaLR 0.21
- MetaSVM -0.82
- CADD 25.70
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance (in cervical cancer)
- UniProt: Uncertain significance (in cervical cancer)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)