D37E (p.Asp37Glu) variant of MC4R (Melanocortin receptor 4)
D37E (p.Asp37Glu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- gnomAD 18-60372239-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0918
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.10
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available