E42D (p.Glu42Asp) variant of MC4R (Melanocortin receptor 4)
E42D (p.Glu42Asp) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- TOPMed rs1356210856
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.89
- CADD 22.60
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available