G8E (p.Gly8Glu) variant of MC4R (Melanocortin receptor 4)
G8E (p.Gly8Glu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 18-60372327-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.06
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available