G39E (p.Gly39Glu) variant of MC4R (Melanocortin receptor 4)
G39E (p.Gly39Glu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- TOPMed rs1322814784
- gnomAD rs1322814784
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- MetaLR 0.21
- MetaSVM -0.70
- CADD 23.20
- PolyPhen-2 0.61
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available