F284L (p.Phe284Leu) variant of MC4R (Melanocortin receptor 4)
F284L (p.Phe284Leu) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F284L (p.Phe284Leu) variant details
- p.Phe284Leu
- TOPMed rs1230092433
- gnomAD rs1230092433
- UniProt VAR 091226
- Likely pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.69
- MetaLR 0.49
- MetaSVM -0.22
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early onset severe obesity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)