L154P (p.Leu154Pro) variant of LEP (Leptin)
L154P (p.Leu154Pro) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Obesity due to congenital leptin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L154P (p.Leu154Pro) variant details
- p.Leu154Pro
- rs1554394014
- ClinGen CA369444245
- ClinVar RCV000518717
- Ensembl rs1554394014
- Likely pathogenic
- Obesity due to congenital leptin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.95
- MetaLR 0.56
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Obesity due to congenital leptin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)