L67P (p.Leu67Pro) variant of STK11 (Q15831)
L67P (p.Leu67Pro) 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; not provided; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L67P (p.Leu67Pro) variant details
- p.Leu67Pro
- rs137853077
- ClinGen CA022714
- ClinVar RCV000007871
- ClinVar RCV000440305
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Structural context available
- Cited in: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. (PMID 9428765)
- Cited in: Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. (PMID 9837816)