I57L (p.Ile57Leu) variant of MC4R (Melanocortin receptor 4)
I57L (p.Ile57Leu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I57L (p.Ile57Leu) variant details
- p.Ile57Leu
- ExAC rs749070050
- gnomAD rs749070050
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.09
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available