D194E (p.Asp194Glu) variant of STK11 (Q15831)
D194E (p.Asp194Glu) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D194E (p.Asp194Glu) variant details
- p.Asp194Glu
- rs786202134
- cosmic curated COSV10522
- ClinVar RCV005052144
- Ensembl rs786202134
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome)
- EBI: Likely pathogenic (in melanoma)
- UniProt: Likely pathogenic (in melanoma)
- 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: mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. (PMID 21189378)