L23R (p.Leu23Arg) variant of MC4R (Melanocortin receptor 4)
L23R (p.Leu23Arg) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- gnomAD 18-60372281-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available