Y18C (p.Tyr18Cys) variant of LEP (Leptin)
Y18C (p.Tyr18Cys) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Obesity due to congenital leptin deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- rs148407750
- ClinGen CA4469626
- ClinVar RCV001162247
- ClinVar RCV001882513
- Conflicting interpretations
- Obesity due to congenital leptin deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0995
- REVEL 0.11
- CADD 3.54
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Obesity due to congenital leptin deficiency; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.023)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)