R165Q (p.Arg165Gln) variant of MC4R (Melanocortin receptor 4)
R165Q (p.Arg165Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R165Q (p.Arg165Gln) variant details
- p.Arg165Gln
- rs747681609
- ClinGen CA8980909
- NCI-TCGA Cosmic COSV5535
- Pathogenic/Likely pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe obesity; Obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.67
- MetaLR 0.38
- MetaSVM -0.08
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function… (PMID 12588803)
- Cited in: Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. (PMID 12646665)