N181K (p.Asn181Lys) variant of STK11 (Q15831)
N181K (p.Asn181Lys) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing 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.
N181K (p.Asn181Lys) variant details
- p.Asn181Lys
- rs730881973
- ClinVar RCV004796592
- Ensembl rs730881973
- ClinGen CA402949111
- Likely pathogenic
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (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)