I57H (p.Ile57His) variant of MC4R (Melanocortin receptor 4)
I57H (p.Ile57His) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I57H (p.Ile57His) variant details
- p.Ile57His
- gnomAD 18-60372181-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 27.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available