S19A (p.Ser19Ala) variant of MC4R (Melanocortin receptor 4)
S19A (p.Ser19Ala) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- rs1313804073
- gnomAD 18-60372294-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 28.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available