E42G (p.Glu42Gly) variant of MC4R (Melanocortin receptor 4)
E42G (p.Glu42Gly) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- rs1915363587
- gnomAD 18-60372224-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 28.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available