D176N (p.Asp176Asn) variant of STK11 (Q15831)
D176N (p.Asp176Asn) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; 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.
D176N (p.Asp176Asn) variant details
- p.Asp176Asn
- rs730881979
- ClinGen CA023060
- cosmic curated COSV58825
- ClinVar RCV000429467
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Structural context available
- Cited in: LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing… (PMID 15987703)
- Cited in: Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. (PMID 9837816)