G55C (p.Gly55Cys) variant of MC4R (Melanocortin receptor 4)
G55C (p.Gly55Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G55C (p.Gly55Cys) variant details
- p.Gly55Cys
- ExAC rs777940806
- gnomAD rs777940806
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.62
- MetaLR 0.15
- MetaSVM -0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available