Y35* (p.Tyr35Ter) variant of MC4R (Melanocortin receptor 4)
Y35* (p.Tyr35Ter) in MC4R (Melanocortin receptor 4) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- rs13447324
- ClinGen CA214751
- ClinVar RCV000015394
- ClinVar RCV000202583
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available
- Cited in: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with… (PMID 10199800)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)