L59S (p.Leu59Ser) variant of MC4R (Melanocortin receptor 4)
L59S (p.Leu59Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L59S (p.Leu59Ser) variant details
- p.Leu59Ser
- gnomAD rs1373340959
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.54
- MetaLR 0.06
- MetaSVM -1.18
- CADD 27.80
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available