N17E (p.Asn17Glu) variant of MC4R (Melanocortin receptor 4)
N17E (p.Asn17Glu) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N17E (p.Asn17Glu) variant details
- p.Asn17Glu
- rs1226732666
- gnomAD 18-60372301-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available