Q43Q (p.Gln43Gln) variant of MC4R (Melanocortin receptor 4)
Q43Q (p.Gln43Gln) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q43Q (p.Gln43Gln) variant details
- p.Gln43Gln
- rs770200773
- gnomAD 18-60372221-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 9.88
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available