R165G (p.Arg165Gly) variant of MC4R (Melanocortin receptor 4)
R165G (p.Arg165Gly) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe obesity; Obesity. The record also includes structural context.
R165G (p.Arg165Gly) variant details
- p.Arg165Gly
- ExAC rs13447332
- TOPMed rs13447332
- gnomAD rs13447332
- Pathogenic/Likely pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe obesity; Obesity
- Missense
- ClinVar: Pathogenic/Likely pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available