E61K (p.Glu61Lys) variant of MC4R (Melanocortin receptor 4)
E61K (p.Glu61Lys) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs370479598
- ClinGen CA8980967
- ClinVar RCV000501559
- ClinVar RCV000518806
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- MetaLR 0.35
- MetaSVM -0.09
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)