A70D (p.Ala70Asp) variant of MC4R (Melanocortin receptor 4)
A70D (p.Ala70Asp) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early onset severe obesity. The record also includes published literature and structural context.
A70D (p.Ala70Asp) variant details
- p.Ala70Asp
- UniProt VAR 091171
- Uncertain significance
- Early onset severe obesity
- Missense
- ClinVar: Uncertain significance (Early onset severe obesity)
- 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)