R7S (p.Arg7Ser) variant of MC4R (Melanocortin receptor 4)
R7S (p.Arg7Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- ExAC rs753796542
- TOPMed rs753796542
- gnomAD rs753796542
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -1.04
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available