Y155S (p.Tyr155Ser) variant of LEPR (Leptin receptor)
Y155S (p.Tyr155Ser) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to leptin receptor gene deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
Y155S (p.Tyr155Ser) variant details
- p.Tyr155Ser
- rs1557670950
- ClinGen CA340674803
- ClinVar RCV000760143
- Ensembl rs1557670950
- Pathogenic
- Obesity due to leptin receptor gene deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.26
- SIFT 0.21
- EVE 0.13
- ClinVar: Pathogenic (Obesity due to leptin receptor gene deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. (PMID 16284652)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)