V52E (p.Val52Glu) variant of MC4R (Melanocortin receptor 4)
V52E (p.Val52Glu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V52E (p.Val52Glu) variant details
- p.Val52Glu
- TOPMed rs1453861734
- gnomAD rs1453861734
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.39
- MetaLR 0.14
- MetaSVM -0.91
- CADD 27.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available