L54L (p.Leu54Leu) variant of MC4R (Melanocortin receptor 4)
L54L (p.Leu54Leu) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- gnomAD 18-60372188-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 9.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available