R7C (p.Arg7Cys) variant of MC4R (Melanocortin receptor 4)
R7C (p.Arg7Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- ExAC rs753796542
- TOPMed rs753796542
- gnomAD rs753796542
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.95
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.15
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available