G55D (p.Gly55Asp) variant of MC4R (Melanocortin receptor 4)
G55D (p.Gly55Asp) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
G55D (p.Gly55Asp) variant details
- p.Gly55Asp
- TOPMed rs1270948834
- gnomAD rs1270948834
- UniProt VAR 091164
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)