L140P (p.Leu140Pro) variant of STK11 (Q15831)
L140P (p.Leu140Pro) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
L140P (p.Leu140Pro) variant details
- p.Leu140Pro
- rs1555737790
- ClinGen CA402948248
- cosmic curated COSV58825
- ClinVar RCV000632845
- Pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Peutz-Jeghers syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)