S30S (p.Ser30Ser) variant of MC4R (Melanocortin receptor 4)
S30S (p.Ser30Ser) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs775359839
- gnomAD 18-60372260-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 9.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available