G59S (p.Gly59Ser) variant of LEP (Leptin)
G59S (p.Gly59Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G59S (p.Gly59Ser) variant details
- p.Gly59Ser
- rs200575914
- ClinGen CA166745178
- ClinVar RCV003313818
- ClinVar RCV003318515
- Pathogenic
- Obesity due to congenital leptin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Obesity due to congenital leptin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)