P64S (p.Pro64Ser) variant of LEP (Leptin)
P64S (p.Pro64Ser) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to congenital leptin deficiency. The record also includes published literature and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- rs2485445933
- ClinGen CA369443667
- ClinVar RCV003313819
- ClinVar RCV003318516
- Pathogenic
- Obesity due to congenital leptin deficiency
- Missense
- ClinVar: Pathogenic (Obesity due to congenital leptin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity. (PMID 37314706)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)