E16G (p.Glu16Gly) variant of STK11 (Q15831)
E16G (p.Glu16Gly) in STK11 (Q15831) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PJS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- rs2145404592
- UniProt VAR 065628
- Ensembl rs2145404592
- Pathogenic
- in PJS
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.38
- MetaLR 0.19
- MetaSVM -0.71
- PolyPhen-2 0.50
- SIFT 0.00
- MutPred 0.50
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Structural context available
- Cited in: A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity. (PMID 21411391)
- Cited in: Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. (PMID 10408777)