D194N (p.Asp194Asn) variant of STK11 (Q15831)
D194N (p.Asp194Asn) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D194N (p.Asp194Asn) variant details
- p.Asp194Asn
- rs121913315
- ClinGen CA023091
- NCI-TCGA Cosmic COSV5882
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.87
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Peutz-Jeg)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Population evidence available
- Structural context available
- Cited in: Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. (PMID 10408777)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)