Q43K (p.Gln43Lys) variant of MC4R (Melanocortin receptor 4)
Q43K (p.Gln43Lys) 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 Obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- rs1288335099
- ClinGen CA402720476
- ClinVar RCV002464551
- Likely pathogenic
- Obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.37
- MetaLR 0.14
- MetaSVM -0.87
- CADD 25.70
- PolyPhen-2 0.49
- SIFT 0.05
- ClinVar: Likely pathogenic (Obesity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)