I69R (p.Ile69Arg) variant of MC4R (Melanocortin receptor 4)
I69R (p.Ile69Arg) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
I69R (p.Ile69Arg) variant details
- p.Ile69Arg
- rs751160202
- ClinGen CA209140
- ClinVar RCV000194758
- ExAC rs751160202
- Pathogenic
- Obesity, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic (Obesity, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)