S12S (p.Ser12Ser) variant of MC4R (Melanocortin receptor 4)
S12S (p.Ser12Ser) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- gnomAD 18-60372314-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available