S36F (p.Ser36Phe) variant of MC4R (Melanocortin receptor 4)
S36F (p.Ser36Phe) 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.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- ExAC rs749834711
- TOPMed rs749834711
- gnomAD rs749834711
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -0.99
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available