N181S (p.Asn181Ser) variant of STK11 (Q15831)
N181S (p.Asn181Ser) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.91 / 1. The record also includes published literature and structural context.
N181S (p.Asn181Ser) variant details
- p.Asn181Ser
- rs886037859
- ClinGen CA10586687
- cosmic curated COSV58823
- ClinVar RCV000241351
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Pathogenic (in sporadic cancer)
- UniProt: Pathogenic (in sporadic cancer)
- 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)