Y21* (p.Tyr21Ter) variant of MC4R (Melanocortin receptor 4)
Y21* (p.Tyr21Ter) in MC4R (Melanocortin receptor 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely 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.
Y21* (p.Tyr21Ter) variant details
- p.Tyr21Ter
- rs770293321
- ClinGen CA8980992
- ClinVar RCV000582390
- ClinVar RCV004017689
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 20.10
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)