L17P (p.Leu17Pro) variant of STK11 (Q15831)
L17P (p.Leu17Pro) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs2080670397
- ClinGen CA402943310
- ClinVar RCV001068126
- Ensembl rs2080670397
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.21
- MetaLR 0.36
- MetaSVM -0.44
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)