S58A (p.Ser58Ala) variant of MC4R (Melanocortin receptor 4)
S58A (p.Ser58Ala) in MC4R (Melanocortin receptor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- rs746241281
- gnomAD 18-60372178-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 12.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available
- Literature evidence available