R165W (p.Arg165Trp) variant of MC4R (Melanocortin receptor 4)
R165W (p.Arg165Trp) 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 Obesity due to melanocortin 4 receptor deficiency; BODY MASS INDEX QUANTITATIVE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R165W (p.Arg165Trp) variant details
- p.Arg165Trp
- rs13447332
- ClinGen CA8980910
- NCI-TCGA Cosmic COSV5535
- ClinVar RCV001700559
- Pathogenic/Likely pathogenic
- Obesity due to melanocortin 4 receptor deficiency; BODY MASS INDEX QUANTITATIVE
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.50
- MetaLR 0.39
- MetaSVM -0.00
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Obesity due to melanocortin 4 receptor deficiency; BODY MASS IND)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with… (PMID 10199800)
- Cited in: Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally… (PMID 12970296)