S4C (p.Ser4Cys) variant of MC4R (Melanocortin receptor 4)
S4C (p.Ser4Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 18-60372339-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -0.99
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available