Y46* (p.Tyr46Ter) variant of LEPR (Leptin receptor)
Y46* (p.Tyr46Ter) in LEPR (Leptin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y46* (p.Tyr46Ter) variant details
- p.Tyr46Ter
- rs757358893
- ClinGen CA894473
- ClinVar RCV002226617
- ClinVar RCV003708622
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 17.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)