Q43* (p.Gln43Ter) variant of MC4R (Melanocortin receptor 4)
Q43* (p.Gln43Ter) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- Ensembl rs1288335099
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available