G10R (p.Gly10Arg) variant of STK11 (Q15831)
G10R (p.Gly10Arg) 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 0.41 / 1. The record also includes published literature and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs2145404498
- ClinGen CA402943107
- ClinVar RCV004518459
- Ensembl rs2145404498
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.12
- MetaLR 0.31
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.48
- 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)